Condition: Alpers Syndrome (disorder)
rs772737979 in
FANCI;POLG gene and
Alpers Syndrome (disorder)
PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
rs145843073 in
MIR6766;POLG gene and
Alpers Syndrome (disorder)
PMID 15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
PMID 20837862 2010 Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.
PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
rs1064794214 in
POLG gene and
Alpers Syndrome (disorder)
PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
PMID 20513108 2010 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
PMID 18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
PMID 25129007 2014 Mitochondrial DNA depletion syndrome causing liver failure.
PMID 15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
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 23665194 2013 The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
PMID 15929042 2005 POLG mutations and Alpers syndrome.
PMID 12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
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 17088268 2006 Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
PMID 16638794 2006 The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
PMID 15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
PMID 20153822 2010 Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
PMID 21670405 2011 Novel POLG splice site mutation and optic atrophy.
PMID 17426723 2007 Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
PMID 12872260 2003 Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
PMID 16177225 2005 POLG mutations in Alpers syndrome.
PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
PMID 19478085 2009 Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
PMID 17980715 2007 Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.
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 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 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
PMID 14745080 2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
PMID 19566497 2009 Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
PMID 16634032 2006 Early-onset familial parkinsonism due to POLG mutations.
PMID 18585914 2008 Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 18195151 2008 POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
PMID 25281868 2014 Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
PMID 19307547 2009 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
PMID 26095671 2015 The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
PMID 22357363 2012 A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.
PMID 24508722 2014 Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
PMID 21301859 2011 Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
PMID 18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
PMID 22114710 2011 Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision.
PMID 23446645 2013 Surgical management of the burn wound and use of skin substitutes: an expert panel white paper.
PMID 21282586 2011 Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus.
PMID 23446635 2013 Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
PMID 21357833 2011 POLG1 manifestations in childhood.
PMID 16545482 2006 Molecular diagnosis of Alpers syndrome.
PMID 23921535 2014 Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
PMID 21956653 2012 Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.
PMID 24642831 2014 A national perspective on prenatal testing for mitochondrial disease.
PMID 20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
PMID 27450679 2017 De novo mtDNA point mutations are common and have a low recurrence risk.
PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
PMID 21704543 2011 Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
PMID 22000311 2011 Alpers syndrome with mutations in POLG: clinical and investigative features.
PMID 22494076 2012 Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
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 19578034 2009 The unfolding clinical spectrum of POLG mutations.
PMID 16957900 2007 Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
PMID 18195149 2008 Juvenile Alpers disease.
PMID 17436221 2007 Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
PMID 19364868 2009 R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.
PMID 20176107 2010 Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
PMID 21305355 2011 Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.
PMID 20142534 2010 The heterozygous presence of the novel p.P1073L mutation in trans with another recessive POLG mutation causes a hepatocerebral disorder identical or very similar to Alpers syndrome.
PMID 25914719 2015 Mutations S305R and P1073L in the POLG gene have been reported to be associated with early childhood Alpers syndrome.
PMID 20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 17502560 2007 MELAS associated with mutations in the POLG1 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 16919951 2006 SANDO: two novel mutations in POLG1 gene.
PMID 20185557 2010 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
PMID 21550804 2011 Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
PMID 29302508 2017 Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
rs1085307741 in
POLG;FANCI gene and
Alpers Syndrome (disorder)
PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
PMID 20185557 2010 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
PMID 16957900 2007 Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
PMID 19578034 2009 The unfolding clinical spectrum of POLG mutations.
PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
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.