×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
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
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
12825077
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
12872260
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
12707443
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
14635118
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
14635118
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
15349879
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
15351195
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
15477547
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
14745080
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
POLG mutations in Alpers syndrome.
16177225
2005
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
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
Alpers Syndrome (disorder)
1.000
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
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Early-onset familial parkinsonism due to POLG mutations.
16634032
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
17088268
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Molecular diagnosis of Alpers syndrome.
16545482
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Early-onset familial parkinsonism due to POLG mutations.
16634032
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
SANDO: two novel mutations in POLG1 gene.
16919951
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
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
Alpers Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
SANDO: two novel mutations in POLG1 gene.
16919951
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
17088268
2006