|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
|
16401742 |
2006 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
|
15349879 |
2004 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
|
12872260 |
2003 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
15351195 |
2004 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
|
12707443 |
2003 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
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 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
|
12975295 |
2003 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
|
14635118 |
2003 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset familial parkinsonism due to POLG mutations.
|
16634032 |
2006 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
|
16024923 |
2005 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
|
rs113994095
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
|
12565911 |
2003 |