Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

Michelangelo Mancuso, Massimiliano Filosto, J. Clarke Stevens, Marc Patterson, Sara Shanske, Sindu Krishna, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

A 19-year-old woman complained of life-long exercise intolerance and had chronic lactic acidosis. Neurological examination was normal, but muscle biopsy showed cytochrome c oxidase-positive fibers and marked complex III deficiency. Sequence analysis showed a novel stop-codon mutation (G15761A) in the mitochondrial DNA (mtDNA)-encoded cytochrome b gene, resulting in loss of the last 41 amino acids of the protein. By PCR/restriction fragment-length polymorphism (RFLP) analysis, the G15761A mutation was very abundant (73%) in the patient's muscle, barely detectable (less than 1%) in her urine, and absent in her blood; it was also absent in muscle, urine and blood from the patient's mother. This mutation fulfills all accepted criteria for pathogenicity.

Original languageEnglish (US)
Pages (from-to)61-63
Number of pages3
JournalJournal of the neurological sciences
Volume209
Issue number1-2
DOIs
StatePublished - May 15 2003

Keywords

  • Cytochrome b mutation
  • Exercise intolerance
  • Mitochondrial myopathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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