×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686 2001
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711 2004
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15824347 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
15917273 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
16024923 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
16368709 2006
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
18500570 2008
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
18546343 2008
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
21686371 2009
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
19501198 2009
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
18783964 2009
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
19766516 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG1 variations presenting as multiple sclerosis.
20837861 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
19813183 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
20138553 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
20576279 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
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.
19538466 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
22616202 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
20691285 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
23430834 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
21235791 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
22006280 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
21515089 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Electroencephalogram abnormal
0.100
CausalMutation
CLINVAR
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
22189570 2012