Gene: ND4
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Gene: ND4L
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Gene: ND3
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Gene: COX3
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Gene: ATP6
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rs199476135 in
ND4;ND4L;ND3;COX3;ATP6 gene and
Leigh Disease
PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
PMID 9631394 1998 Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
PMID 17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
PMID 11119722 2000 The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.
PMID 11731285 2002 A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
PMID 11382202 2000 A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
PMID 7668837 1995 A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
PMID 11245730 2001 The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
rs199476135 in
ND4;ND4L;ND3;COX3;ATP6 gene and
Striatonigral Degeneration, Infantile, Mitochondrial
PMID 7668837 1995 A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.