|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
|
rs113994095
|
|
Limb dysmetria
|
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
|
|
Limb dysmetria
|
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
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
|
23783014 |
2013 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
|
21686371 |
2009 |
|
rs113994095
|
|
Limb dysmetria
|
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
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
|
rs113994095
|
|
Limb dysmetria
|
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
|
|
Limb dysmetria
|
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
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
|
rs113994095
|
|
Limb dysmetria
|
T |
0.700 |
CausalMutation
|
CLINVAR |
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
|
20576279 |
2010 |