The epidemiology of mitochondrial disorders--past, present and future

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20. doi: 10.1016/j.bbabio.2004.09.005.


A number of epidemiological studies of mitochondrial disease have been carried out over the last decade, clearly demonstrating that mitochondrial disorders are far more common than was previously accepted. This review summarizes current knowledge of the prevalence of human mitochondrial disorders--data that has important implications for the provision of health care and adequate resources for research into the pathogenesis and treatment of these disorders.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Epidemiologic Studies
  • Forecasting
  • Genetics, Population
  • Humans
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / epidemiology*
  • Mitochondrial Diseases / genetics
  • Mutation
  • Phenotype
  • Prevalence