Gene: ND5
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Gene: CYTB
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Gene is located in Chromosome:
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Gene: ND6
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Gene is located in Chromosome:
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rs199476105 in
ND5;CYTB;ND6 gene and
LEBER OPTIC ATROPHY AND DYSTONIA
PMID 8016139 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
PMID 8644732 1996 Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
rs199476105 in
ND5;CYTB;ND6 gene and
Leigh Disease
PMID 10894222 2000 Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
PMID 8016139 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
PMID 8622678 1996 Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
rs869025186 in
ND5;CYTB;ND6 gene and
Optic Atrophy, Hereditary, Leber
PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.