Exercise intolerance due to cytochrome b mutation

Rami Massie, Lee Jun C. Wong, Margherita Milone

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

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 ragged-red fibers together with exercise intolerance and lactic acidemia provide a clue for the diagnosis of this rare mitochondrial disorder.

Original languageEnglish (US)
Pages (from-to)136-140
Number of pages5
JournalMuscle and Nerve
Volume42
Issue number1
DOIs
StatePublished - Jul 1 2010

Keywords

  • Cytochrome b
  • Exercise intolerance
  • Mitochondrial myopathy
  • Mutation
  • Ragged-red fibers

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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