|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
GeneticVariation |
CLINVAR |
mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.
|
24002810 |
2013 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
|
23266623 |
2013 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
GeneticVariation |
CLINVAR |
Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C.
|
22789932 |
2013 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
GeneticVariation |
CLINVAR |
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
|
23206802 |
2013 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
|
24118886 |
2013 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
|
18461509 |
2007 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
16217706 |
2005 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
|
11731285 |
2002 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
|
11245730 |
2001 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
|
11382202 |
2000 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.
|
11119722 |
2000 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
|
9631394 |
1998 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
|
9270604 |
1997 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
|
8602753 |
1996 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
|
8554662 |
1995 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
GeneticVariation |
CLINVAR |
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
|
8554662 |
1995 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
|
1550128 |
1992 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
|
1436530 |
1992 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
Leigh Disease
|
0.500 |
CausalMutation |
CLINVAR |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |