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 language | English |
|---|---|
| Pages (from-to) | 1444-1447 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 51 |
| Issue number | 5 |
| Publication status | Published - 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.