title: Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita.
abstract: A 10-year-old female with arthrogryposis multiplex congenita is presented. Clinical, neurophysiologic, and histologic findings suggested a mild myopathy. The analysis of enzymatic activity in the homogenate and of mitochondrial function in saponin-permeabilized fibers from the muscle biopsy revealed an approximately twofold-decreased specific activity of the NADH:CoQ oxidoreductase (complex I of the mitochondrial respiratory chain) that was compensated for by an increased number of mitochondria. The complex I deficiency was also detected in cultivated skin fibroblasts of the patient. The observed defect of mitochondrial oxidative phosphorylation in arthrogryposis multiplex congenita may be of pathogenetic relevance.
authors.affiliation: Klinik für Neurologie II, Bern Universität, Magdeburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Vielhaber
authors.forename: H
authors.initials: H
authors.lastname: Feistner
authors.forename: W
authors.initials: W
authors.lastname: Schneider
authors.forename: J
authors.initials: J
authors.lastname: Weis
authors.forename: W S
authors.initials: WS
authors.lastname: Kunz
mesh_terms: D001176:Arthrogryposis / Q000201:enzymology* / Q000473:pathology; D001706:Biopsy; D002648:Child; D042967:Electron Transport Complex I; D004734:Energy Metabolism; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
chemical_list: D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I