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Mitochondrial Disorders

  1. Sabine Hofmann,
  2. Matthias F Bauer

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005539



How to Cite

Hofmann, S. and Bauer, M. F. 2006. Mitochondrial Disorders. eLS. .

Author Information

  1. Academic Hospital, Munich-Schwabing, Germany

Publication History

  1. Published Online: 27 JAN 2006


Mitochondria are double-membrane organelles which play a pivotal role in cellular metabolism and are responsible for creating free energy, in the form of ATP, essential for the normal function and maintenance of all human organ systems. Genetic defects of mitochondrial functions cause human diseases associated with a wide spectrum of clinical phenotypes.


  • oxidative phosphorylation;
  • respiratory chain defects;
  • mitochondrial deoxyribonucleic acid;
  • maternal inheritance;
  • nuclear-encoded mitochondrial proteins