×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
12210792
2002
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
12565911
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
12825077
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
14635118
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
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
Seizures
0.430
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
Seizures
0.430
CausalMutation
CLINVAR
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15824347
2005
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
16401742
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
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
Seizures
0.430
GeneticVariation
CLINVAR
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Early-onset familial parkinsonism due to POLG mutations.
16634032
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
17426723
2007
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
17436221
2007
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Depletion of mtDNA: syndromes and genes.
17280874
2007
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
18585914
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
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
Seizures
0.430
GeneticVariation
CLINVAR
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
18546365
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
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
Seizures
0.430
CausalMutation
CLINVAR
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
18294203
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
18195151
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
CausalMutation
CLINVAR
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
21686371
2009
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
19752458
2009