rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
|
18585914 |
2008 |
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 |
rs201477273
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.
|
19364868 |
2009 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
|
19501198 |
2009 |
rs113994095
|
|
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 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The unfolding clinical spectrum of POLG mutations.
|
19578034 |
2009 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
|
19752458 |
2009 |
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 dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
|
19813183 |
2010 |
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 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
|
20185557 |
2010 |
rs113994096
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
|
20513108 |
2010 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
|
20513108 |
2010 |
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 |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
|
20803511 |
2010 |
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 |
POLG1 variations presenting as multiple sclerosis.
|
20837861 |
2010 |
rs368435864
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
|
20843780 |
2011 |
rs121918054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
|
21138766 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
|
21235791 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function.
|
21515089 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
rs778573169
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel POLG splice site mutation and optic atrophy.
|
21670405 |
2011 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
|
21686371 |
2009 |