Mitochondrial myopathies

Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602.


Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns-Sayre syndrome; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation-phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal inheritance.

Publication types

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

MeSH terms

  • Carnitine / deficiency
  • Carnitine O-Palmitoyltransferase / deficiency
  • Cytochromes
  • DNA, Mitochondrial / metabolism
  • Humans
  • Microscopy, Electron
  • Mitochondria / metabolism
  • Mitochondria, Muscle / ultrastructure*
  • Muscles / metabolism
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism
  • Muscular Diseases / pathology*
  • Oxidative Phosphorylation
  • Oxygen Consumption
  • Pyruvate Carboxylase Deficiency Disease
  • Pyruvate Dehydrogenase Complex Deficiency Disease
  • Syndrome


  • Cytochromes
  • DNA, Mitochondrial
  • Carnitine O-Palmitoyltransferase
  • Carnitine