The diagnosis of mitochondrial muscle disease

Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004.


Mitochondrial respiratory chain abnormalities are an important cause of neuromuscular disease and may be due to defects of either the mitochondrial or nuclear genome. On account of the clinical and genetic heterogeneity exhibited by the mitochondrial myopathies, their investigation and diagnosis remains a challenge, requiring a combination of techniques including muscle histochemistry, biochemical assessment of respiratory chain function and molecular genetic studies. Here, we describe a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial muscle disease, highlighting the many potential problems that can hinder reaching the correct diagnosis.

Publication types

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

MeSH terms

  • DNA, Mitochondrial*
  • Humans
  • Mitochondria, Muscle / pathology
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Molecular Biology / methods
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / genetics


  • DNA, Mitochondrial