A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

• Published in: Annals of neurology Vol. 45; no. 1; pp. 127 - 130
• Main Authors: Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E., DiMauro, S.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-01-1999; Willey-Liss
• Subjects: Adult; Biological and medical sciences; Codon, Terminator; Cytochrome b Group - genetics; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; Electron Transport Complex IV - analysis; Humans; Male; Medical sciences; Muscle Fatigue - genetics; Muscle, Skeletal - enzymology; Myoglobinuria - genetics; Neurology; Physical Exertion; Point Mutation; Succinate Dehydrogenase - analysis; Human; Physical exercise; Urine; Nonsense mutation; Deficiency; Male; Genetic determinism; Case study; Progressive; Intolerance; Striated muscle disease; Respiratory chain; Mitochondria; Cytochrome b; Gene; Young adult; Diagnosis; Myoglobinuria
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/1531-8249(199901)45:1<127::AID-ART20>3.0.CO;2-Y

We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria associated with complex III deficiency in muscle. The point mutation results in the replacement of a glycine at amino acid position 190 with a stop codon. This change predicts premature termination of translation, leading to a truncated protein missing 244 amino acids at the C‐terminus of cytochrome b. The mutation fulfills all the accepted criteria for pathogenicity, suggesting that this is the primary cause of the myopathy in the patient. Ann Neurol 1999;45:127–130