Mitochondrial complex i deficiency in a female with multiplex arthrogryposis congenita - 06/09/11
, ⁎, Helmut Feistner, MD , Wolfgang Schneider, MD †, Joachim Weis, MD ‡, Wolfram S Kunz, PhD § Klinik für Neurologie II Bern Universität; Magdeburg, Germany 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.
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Vol 22 - N° 1
P. 53-56 - janvier 2000 Retour au numéro
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