rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
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
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
|
20138553 |
2010 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
|
16368709 |
2006 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
|
19501198 |
2009 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
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
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
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
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
|
21235791 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
|
19766516 |
2010 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
|
19538466 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene.
|
19813183 |
2010 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
rs113994095
|
|
Ataxia, Sensory
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |