Scientific article

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

Published inJournal of neurology, vol. 237, no. 7, p. 399-404
Publication date1990

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.

  • Acidosis, Lactic/etiology
  • Adenosine Triphosphate/metabolism
  • Adult
  • Cells, Cultured
  • DNA, Mitochondrial/analysis
  • Enzyme-Linked Immunosorbent Assay
  • Exercise/physiology
  • Humans
  • Magnetic Resonance Spectroscopy
  • Male
  • Mitochondria, Muscle/ultrastructure
  • Muscles/metabolism/ultrastructure
  • Muscular Diseases/genetics/metabolism/pathology
  • NAD(P)H Dehydrogenase (Quinone)
  • Oxygen Consumption/physiology
  • Phosphocreatine/metabolism
  • Quinone Reductases/deficiency
Citation (ISO format)
BET, L et al. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. In: Journal of neurology, 1990, vol. 237, n° 7, p. 399–404.
ISSN of the journal0340-5354

Technical informations

Creation10/12/2016 4:33:00 PM
First validation10/12/2016 4:33:00 PM
Update time03/15/2023 1:05:49 AM
Status update03/15/2023 1:05:49 AM
Last indexation01/16/2024 10:36:16 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack