Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Article Details
- CitationCopy to clipboard
Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH Jr, DiMauro S
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology. 1998 Nov;51(5):1444-7.
- PubMed ID
- 9818877 [ View in PubMed]
- 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.