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

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Summary

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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Authors and Affiliations

  1. Institute of Clinical Neurology, University of Milan, Via F. Sforza 35, I-20122, Milan, Italy

    L. Bet, N. Bresolin, M. Moggio, G. Meola, A. Prelle, F. Fortunato & G. Scarlato

  2. Institute of Neurology, Queen Square, London, UK

    A. H. Schapira

  3. Department of Physiology, C.M.U., University of Geneva, Geneva, Switzerland

    T. Binzoni & P. Cerretelli

  4. Division of Biology, California Institute of Technology, Pasadena, California, USA

    A. Chomyn

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  1. L. Bet
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  2. N. Bresolin
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  3. M. Moggio
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  4. G. Meola
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  5. A. Prelle
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  6. A. H. Schapira
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  11. G. Scarlato
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Bet, L., Bresolin, N., Moggio, M. et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. J Neurol 237, 399–404 (1990). https://doi.org/10.1007/BF00314729

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  • DOI: https://doi.org/10.1007/BF00314729

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