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 journalArticlepeer-review

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

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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