Ingrid E. Scheffer1, Filippo M. Santorelli2, Stefania Assereto1, E. Tonoli1, Alessandra Tessa2, Monica Traverso1, Sara Scapolan1, M. Bado1, Silvana Tedeschi3, Carlo Minetti1
1Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
2Division of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy
3Laboratory of Medical Genetics, Istituti Clinici di Perfezionamento, Milan, Italy
Tóm tắt
AbstractWe 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
