[Myopathy due to succinate cytochrome C oxidoreductase deficiency: possible defect of complex II of the respiratory chain].
The case of a 24 years-old woman with weakness since the teens and progressive loss of muscle strength is reported. The muscle biopsy showed increased number of mitochondria. In two occasions the respiratory chain enzymes showed important reduction of the succinate-cytochrome-C-reductase, suggesting a possible defect in the complex II of the respiratory chain. Large doses of vitamins C and K were prescribed. There was improvement of muscle strength. A discussion about the most common syndromes marked by mitochondrial abnormalities in muscle is made, as well as about the type of work-up that should be done in suspect cases of respiratory chain defects.
Werneck
L C
LC
Serviço de Doenças Neuromusculares do Hospital de Clinicas, Universidade Federal do Paraná, Curitiba, Brasil.
DiMauro
S
S
D000328:Adult; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D010101:Oxygen Consumption; D013384:Succinate Cytochrome c Oxidoreductase / Q000172:deficiency*
D010088:Oxidoreductases; D013384:Succinate Cytochrome c Oxidoreductase
Miopatia por deficiência de succinato-citocromo-C-redutase: possível defeito no complexo II da cadeia respiratória.