Article

Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

1999-03-01

Abstract excerpt

We report the effect on complex I function of the 14484 Leber's hereditary optic neuropathy (LHON) mutation affecting the ND6 subunit gene. The same gene was also reported to carry another mutation, at position 14459, associated with the LHON/dystonia phenotype that induces a reduction of complex I–specific activity and increases the sensitivity to the product decylubiquinol. Given the proximity of both mutations...

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Literature Corpus work: a5fee414-6875-591c-a38f-9823b52842e5
DOI: 10.1002/1531-8249(199903)45:3<320::aid-ana7>3.3.co;2-c

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