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

Autor:	Salvatore DiMauro, Antonio L. Andreu, Kurenai Tanji, Georgios M. Hadjigeorgiou, Alexander Shtilbans, Claudio Bruno, Sindu Krishna, T. C. Dunne, Eduardo Bonilla, Carolyn M. Sue, S. Shanske
Rok vydání:	1999
Předmět:	Genetics medicine.medical_specialty Cytochrome b Point mutation Myoglobinuria Nonsense mutation Respiratory chain Exercise intolerance Biology medicine.disease Stop codon Endocrinology Neurology Internal medicine Mutation (genetic algorithm) medicine Neurology (clinical) medicine.symptom
Zdroj:	Annals of Neurology. 45:127-130
ISSN:	1531-8249 0364-5134
DOI:	10.1002/1531-8249(199901)45:1<127::aid-art20>3.0.co;2-y
Popis:	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.
Databáze:	OpenAIRE
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