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Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
Author(s) -
Bruno Claudio,
Santorelli Filippo M.,
Assereto Stefania,
Tonoli Emmanuel,
Tessa Alessandra,
Traverso Monica,
Scapolan Sara,
Bado Massimo,
Tedeschi Silvana,
Minetti Carlo
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10429
Subject(s) - exercise intolerance , nonsense mutation , lactic acidosis , muscle biopsy , mutation , cytochrome , cytochrome c oxidase , mitochondrial myopathy , biology , gene mutation , medicine , respiratory chain , gene , mitochondrion , endocrinology , genetics , mitochondrial dna , biochemistry , biopsy , missense mutation , heart failure , enzyme
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