Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
✍ Scribed by Claudio Bruno; Filippo M. Santorelli; Stefania Assereto; Emmanuel Tonoli; Alessandra Tessa; Monica Traverso; Sara Scapolan; Massimo Bado; Silvana Tedeschi; Carlo Minetti
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 129 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
We report a novel nonsense mitochondrial cytochrome b mutation (G15170A) in a 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. This mutation, resulting in the loss of 228 amino acids of the protein, was very abundant in the patient's muscle, but undetectable in lymphocytes and fibroblasts. Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. Muscle Nerve 28: 508–511, 2003