Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Understanding the Epilepsy in POLG Related Disease.
|
28837072 |
2017 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular features of POLG-related mitochondrial disease.
|
23545419 |
2013 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Polymerase gamma 1 mutations: clinical correlations.
|
20220442 |
2010 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
|
19478085 |
2009 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
|
18575922 |
2008 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
|
17846414 |
2007 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
|
17420318 |
2007 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
|
15534189 |
2004 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
15351195 |
2004 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
|
11897778 |
2002 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
|
12210792 |
2002 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
|
12210792 |
2002 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|