Xcode Life

Gene: POLG

Alternate names for this Gene: MDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAE

Gene Summary: Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: DNA polymerase gamma, catalytic subunit

Type of Gene: protein-coding

Gene: MIR6766

Alternate names for this Gene: hsa-mir-6766

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: microRNA 6766

Type of Gene: ncRNA

rs113994095 in POLG;MIR6766 gene and Alpers Syndrome (disorder)

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 15929042 2005 POLG mutations and Alpers syndrome.

PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

PMID 18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

rs113994095 in POLG;MIR6766 gene and Ataxia, Sensory

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 19813183 2010 Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

rs1555453538 in POLG;MIR6766 gene and Attention deficit hyperactivity disorder

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

rs1555453538 in POLG;MIR6766 gene and Autistic Disorder

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

rs113994095 in POLG;MIR6766 gene and Bipolar Disorder

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

rs1555453538 in POLG;MIR6766 gene and Constipation

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

rs113994095 in POLG;MIR6766 gene and Decreased tendon reflex

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

rs113994095 in POLG;MIR6766 gene and Decreased vibratory sense

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

rs1555453538 in POLG;MIR6766 gene and Eczema

rs113994095 in POLG;MIR6766 gene and Electroencephalogram abnormal

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

rs1555453538 in POLG;MIR6766 gene and Hypothyroidism

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

rs113994095 in POLG;MIR6766 gene and Impaired proprioception

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

rs1555453538 in POLG;MIR6766 gene and Isolated somatotropin deficiency

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

rs113994095 in POLG;MIR6766 gene and Kinetic tremor

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

rs113994095 in POLG;MIR6766 gene and Limb dysmetria

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

rs113994095 in POLG;MIR6766 gene and Liver Failure, Acute

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 21235791 2011 We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome).

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

rs113994095 in POLG;MIR6766 gene and Mitochondrial Diseases

PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs113994095 in POLG;MIR6766 gene and Myoclonus

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

rs113994095 in POLG;MIR6766 gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 15349879 2004 Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

PMID 12975295 2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 12872260 2003 Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 16634032 2006 Early-onset familial parkinsonism due to POLG mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

rs113994095 in POLG;MIR6766 gene and Polyneuropathy

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

rs121918055 in POLG;MIR6766 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

PMID 11897778 2002 Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

PMID 17846414 2007 Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

PMID 17420318 2007 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

PMID 15534189 2004 A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

rs113994095 in POLG;MIR6766 gene and Seizures

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 21515089 2011 We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

rs113994095 in POLG;MIR6766 gene and Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 16080118 2005 Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

PMID 14745080 2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

PMID 26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

PMID 16919951 2006 SANDO: two novel mutations in POLG1 gene.

PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

rs113994095 in POLG;MIR6766 gene and Static Tremor

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.