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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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.[1]


  1. 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, S. Neurology (1998) [Pubmed]
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