Ann Neurol. 2001 Oct;50(4):540-3.

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

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

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John F. Kennedy Institute, Glostrup Denmark.

Abstract

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, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278.

PMID:: 11601507; [PubMed - indexed for MEDLINE]

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Multisystem disorder associated with a missense mutation in the mitochondrial cy...
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Ann Neurol. 2001 Oct ;50(4):540-3.

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