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Article

Exercise intolerance due to cytochrome b mutation.

Muscle & nerve - 1 Jul 2010

Massie Rami, Wong Lee-Jun C, Milone Margherita

Abstract excerpt

Cytochrome b mutations are rare causes of exercise intolerance. We report an 18-year-old man with exercise intolerance since childhood, resting lactic acidosis, cytochrome c oxidase (COX)-positive ragged-red fibers, and isolated muscle complex III deficiency due to a heteroplasmic m.14849T>C mutation in cytochrome b. We review previously described patients carrying mutations in the same gene. COX-positive...

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Identifiers

PMID: 20544923
DOI: 10.1002/mus.21649

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