title: Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria.
abstract: 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.
authors.affiliation: Department of Gynaecology and Obstetrics, University Hospital, Geneva, Switzerland.
authors.forename: R C
authors.initials: RC
authors.lastname: Martin-Du Pan
authors.forename: M A
authors.initials: MA
authors.lastname: Morris
authors.forename: H
authors.initials: H
authors.lastname: Favre
authors.forename: A
authors.initials: A
authors.lastname: Junod
authors.forename: G P
authors.initials: GP
authors.lastname: Pizzolato
authors.forename: A
authors.initials: A
authors.lastname: Bottani
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008928:Mitochondria; D009212:Myoglobinuria / Q000235:genetics* / Q000401:mortality; D013557:Switzerland