rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
|
19813183 |
2010 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |
rs113994095
|
|
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
rs113994095
|
|
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
|
|
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
|
19766516 |
2010 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
|
18783964 |
2009 |
rs113994095
|
|
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
|
20576279 |
2010 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
rs113994095
|
|
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
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
rs113994095
|
|
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 |