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Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria

✍ Scribed by Martin-Du Pan, Rémy C.; Morris, Michael A.; Favre, Hervé; Junod, Alain; Pizzolato, Gian-Paolo; Bottani, Armand

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
260 KB
Volume
69
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a Swiss family in which 10 individuals of both sexes in 4 successive generations suffered from myoglobinuria, precipitated by febrile illness. It is the second family described with autosomal dominant inheritance of myoglobinuria. Four individuals suffered acute renal failure, which in two was reversible only after dialysis. In a recent case, a mitochondrial disorder was suspected because of an abnormal increase in lactate levels during an exercise test and because of a subsarcolemmal accumulation of mitochondria in a muscle biopsy, associated with a lack of cytochrome C oxidase in some muscle fibers. No mutation in the mitochondrial DNA was identified. Along with the inheritance pattern, these findings suggest that the myoglobinuria in this family is caused by a nuclear-encoded mutation affecting the respiratory chain. Am.

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