A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

A. L. Andreu, C. Bruno, T. C. Dunne, K. Tanji, S. Shanske, C. M. Sue, S. Krishna, G. M. Hadjigeorgiou, A. Shtilbans, E. Bonilla, S. DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria associated with complex III deficiency in muscle. The point mutation results in the replacement of a glycine at amino acid position 190 with a stop codon. This change predicts premature termination of translation, leading to a truncated protein missing 244 amino acids at the C-terminus of cytochrome b. The mutation fulfills all the accepted criteria for pathogenicity, suggesting that this is the primary cause of the myopathy in the patient.

Original languageEnglish
Pages (from-to)127-130
Number of pages4
JournalAnnals of Neurology
Volume45
Issue number1
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Neuroscience(all)

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