×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
15477547
2004
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
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
0.600
CausalMutation
disease
CLINVAR
POLG1 variations presenting as multiple sclerosis.
20837861
2010
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21993618
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
22006280
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
22189570
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15824347
2005
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
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
0.600
CausalMutation
disease
CLINVAR
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
21515089
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
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
0.600
CausalMutation
disease
CLINVAR
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
21647632
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
15689359
2005
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
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
0.600
CausalMutation
disease
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
0.600
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
CLINVAR
POLG mutation presenting with late-onset jerky torticollis.
23212759
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
CausalMutation
disease
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
0.600
GeneticVariation
disease
UNIPROT
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
0.600
GeneticVariation
disease
UNIPROT
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
0.600
GeneticVariation
disease
UNIPROT
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
16639411
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
GeneticVariation
disease
UNIPROT
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
11431686
2001
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
GeneticVariation
disease
UNIPROT
Early-onset familial parkinsonism due to POLG mutations.
16634032
2006
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.600
GeneticVariation
disease
UNIPROT
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
0.600
GeneticVariation
disease
UNIPROT
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
15351195
2004