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A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

✍ Scribed by L. Bet; N. Bresolin; M. Moggio; G. Meola; A. Prelle; A. H. Schapira; T. Binzoni; A. Chomyn; F. Fortunato; P. Cerretelli; G. Scarlato

Publisher: Springer
Year: 1990
Tongue: English
Weight: 984 KB
Volume: 237
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00314729

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✦ Synopsis

A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.

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