Morphological studies of skeletal muscle in lactic acidosis

J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113.

Abstract

This paper underscores the contribution of routine morphological examination of skeletal muscle in patients with lactic acidosis. Mitochondrial disorders are by far the most common causes of primary lactic acidosis, in which muscle biopsy analysis helps in diagnosis and in the search for the molecular anomalies. Thus, we focus our attention on one particular point: the contribution of the morphological study of muscle biopsy in primary lactic acidosis due to mitochondrial disorders, especially mitochondrial respiratory-chain diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acidosis, Lactic / enzymology
  • Acidosis, Lactic / genetics
  • Acidosis, Lactic / pathology*
  • Adolescent
  • Adult
  • Child
  • DNA, Mitochondrial / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology*
  • Mutation

Substances

  • DNA, Mitochondrial