×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
The spectrum of epilepsy caused by POLG mutations.
26104464 2016
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21993618 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
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.
29588995 2018
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
POLG1 variations presenting as multiple sclerosis.
20837861 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
23448099 2013
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
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.
22342071 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
23783014 2013
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15824347 2005
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
21647632 2012
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830 2014
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
0.100
CausalMutation
CLINVAR
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
19766516 2010
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Kinetic tremor
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
Kinetic tremor
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
Kinetic tremor
0.100
CausalMutation
CLINVAR
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
24725338 2014