Variant: rs113994094 

    present in Gene: POLG
    present in Chromosome: 15
    Position on Chromosome: 89330184
    Alleles of this Variant: G/A

rs113994094 in POLG gene and Alpers Syndrome (disorder) 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.

rs113994094 in POLG gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

PMID 19307547 2009 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

rs113994094 in POLG gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 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 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

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

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

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

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

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

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

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

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

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

rs113994094 in POLG gene and Seizures PMID 25585994 2015 Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.

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

PMID 23665194 2013 The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.