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

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

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)399-404
Number of pages6
JournalJournal of Neurology
Volume237
Issue number7
DOIs
Publication statusPublished - Nov 1990

Fingerprint

Mitochondrial Myopathies
Lactic Acidosis
Exercise
Muscle Mitochondrion
Electron Transport Complex I
Muscles
Electron Transport Complex IV
Mitochondrial DNA
Magnetic Resonance Spectroscopy
Biopsy
Peptides

Keywords

  • P nuclear magnetic resonance
  • Mitochondria
  • Muscle
  • NADH-CoQ reductase

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. / Bet, L.; Bresolin, N.; Moggio, M.; Meola, G.; Prelle, A.; Schapira, A. H.; Binzoni, T.; Chomyn, A.; Fortunato, F.; Cerretelli, P.; Scarlato, G.

In: Journal of Neurology, Vol. 237, No. 7, 11.1990, p. 399-404.

Research output: Contribution to journalArticle

Bet, L, Bresolin, N, Moggio, M, Meola, G, Prelle, A, Schapira, AH, Binzoni, T, Chomyn, A, Fortunato, F, Cerretelli, P & Scarlato, G 1990, 'A case of mitochondrial myopathy, lactic acidosis and complex I deficiency', Journal of Neurology, vol. 237, no. 7, pp. 399-404. https://doi.org/10.1007/BF00314729
Bet, L. ; Bresolin, N. ; Moggio, M. ; Meola, G. ; Prelle, A. ; Schapira, A. H. ; Binzoni, T. ; Chomyn, A. ; Fortunato, F. ; Cerretelli, P. ; Scarlato, G. / A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. In: Journal of Neurology. 1990 ; Vol. 237, No. 7. pp. 399-404.
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AU - Schapira, A. H.

AU - Binzoni, T.

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