Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
Corresponding Author
Claudio Bruno MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, ItalySearch for more papers by this authorFilippo M. Santorelli MD
Division of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy
Search for more papers by this authorStefania Assereto BS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorEmmanuel Tonoli MS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorAlessandra Tessa PhD
Division of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy
Search for more papers by this authorMonica Traverso BS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorSara Scapolan MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorMassimo Bado MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorSilvana Tedeschi PhD
Laboratory of Medical Genetics, Istituti Clinici di Perfezionamento, Milan, Italy
Search for more papers by this authorCarlo Minetti MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorCorresponding Author
Claudio Bruno MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, ItalySearch for more papers by this authorFilippo M. Santorelli MD
Division of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy
Search for more papers by this authorStefania Assereto BS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorEmmanuel Tonoli MS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorAlessandra Tessa PhD
Division of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy
Search for more papers by this authorMonica Traverso BS
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorSara Scapolan MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorMassimo Bado MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorSilvana Tedeschi PhD
Laboratory of Medical Genetics, Istituti Clinici di Perfezionamento, Milan, Italy
Search for more papers by this authorCarlo Minetti MD
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy
Search for more papers by this authorAbstract
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
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