Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro

J Neurol Neurosurg Psychiatry. 1986 Jun;49(6):645-50. doi: 10.1136/jnnp.49.6.645.

Abstract

A male adult with exercise-related myalgia and weakness from the age of 17 years, developed contractions after moderate exertion which were electrically silent. Triglyceride loading or prolonged fasting provoked excessive ketosis. His isolated muscle mitochondria had severe blockade of the respiratory chain, particularly of NADH-CoQ reductase. After 1.5 years a second biopsy was performed. The electron transport capacity of the respiratory chain was much improved, but now a lesion was observed in energy transduction of sites 1 and 2 of the respiratory chain. The unexpected abolishment of respiratory chain blockade was paralleled by only mild clinical improvement.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Electron Transport
  • Electron Transport Complex III
  • Exercise Test
  • Fasting
  • Humans
  • Male
  • Mitochondria, Muscle / metabolism*
  • Multienzyme Complexes / metabolism
  • Muscular Diseases / metabolism*
  • Oxidative Phosphorylation
  • Oxygen Consumption
  • Quinone Reductases / metabolism
  • Triglycerides

Substances

  • Multienzyme Complexes
  • Triglycerides
  • Quinone Reductases
  • Electron Transport Complex III