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

Research output: Contribution to journalArticle

67 Citations (Scopus)

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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Cytochromes b
Muscular Diseases
Missense Mutation
Mitochondrial DNA
Electron Transport Complex III
Genes
Skeletal Muscle
Exercise
Amino Acids
Muscles
Mutation

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. / Andreu, A. L.; Bruno, C.; Shanske, S.; Shtilbans, A.; Hirano, M.; Krishna, S.; Hayward, L.; Systrom, D. S.; Brown, R. H.; DiMauro, Salvatore.

In: Neurology, Vol. 51, No. 5, 11.1998, p. 1444-1447.

Research output: Contribution to journalArticle

Andreu, AL, Bruno, C, Shanske, S, Shtilbans, A, Hirano, M, Krishna, S, Hayward, L, Systrom, DS, Brown, RH & DiMauro, S 1998, 'Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy', Neurology, vol. 51, no. 5, pp. 1444-1447.
Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S et al. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology. 1998 Nov;51(5):1444-1447.
Andreu, A. L. ; Bruno, C. ; Shanske, S. ; Shtilbans, A. ; Hirano, M. ; Krishna, S. ; Hayward, L. ; Systrom, D. S. ; Brown, R. H. ; DiMauro, Salvatore. / Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. In: Neurology. 1998 ; Vol. 51, No. 5. pp. 1444-1447.
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