Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

A. L. Andreu, C. Bruno, S. Shanske, A. Shtilbans, M. Hirano, S. Krishna, L. Hayward, D. S. Systrom, R. H. Brown, Salvatore DiMauro

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Abstract

A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.

Original languageEnglish
Pages (from-to)1444-1447
Number of pages4
JournalNeurology
Volume51
Issue number5
Publication statusPublished - Nov 1998

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Andreu, A. L., Bruno, C., Shanske, S., Shtilbans, A., Hirano, M., Krishna, S., Hayward, L., Systrom, D. S., Brown, R. H., & DiMauro, S. (1998). Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology, 51(5), 1444-1447.