Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.
|
24153443 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy.
|
17352390 |
2007 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
|
8078883 |
1994 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome.
|
9511882 |
1998 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
|
8554662 |
1995 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
|
9631394 |
1998 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The rare T8993C mutation in the MT-ATP6 gene is generally considered to be clinically milder, but there is marked clinical heterogeneity ranging from asymptomatic carriers to fatal infantile Leigh syndrome.
|
22819295 |
2012 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
16217706 |
2005 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.
|
24002810 |
2013 |
Leigh Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.
|
18461509 |
2007 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS.
|
16217706 |
2005 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
|
23266623 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C.
|
22789932 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene.
|
22348497 |
2012 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS).
|
31500933 |
2020 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).
|
23266623 |
2013 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
|
1550128 |
1992 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
|
23206802 |
2013 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a new case of Leigh disease (subacute necrotizing encephalomyelopathy) in a girl with mitochondrial DNA (mtDNA) mutation in the ATPase6 gene at nucleotide position 8993.
|
8750605 |
1995 |
Leigh Disease
|
0.500 |
Biomarker
|
disease |
LHGDN |
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
|
15228605 |
2004 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in MT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, while MT-ATP8 is less frequently mutated in patients with mitochondrial disease.
|
27502083 |
2016 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
|
1436530 |
1992 |