Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
case_report · Level V
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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.
Medical subject headings
- Cytochrome b Group
- DNA, Mitochondrial
- Mitochondrial Myopathies
- Mutation, Missense