J Neurol. 1990 Nov;237(7):399-404.

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

Bet L, Bresolin N, Moggio M, Meola G, Prelle A, Schapira AH, Binzoni T, Chomyn A, Fortunato F, Cerretelli P, et al.

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Institute of Clinical Neurology, University of Milan, Italy.

Abstract

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.

PMID:: 2125637; [PubMed - indexed for MEDLINE]

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