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Article

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.

Annals of neurology - 1 Oct 2001

Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, Vissing J

Abstract excerpt

Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa,...

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Identifiers

PMID: 11601507
DOI: 10.1002/ana.1224

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