Gene: ND6
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Gene: ND5
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Gene: CYTB
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rs387906424 in
ND6;ND5;CYTB 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.