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Experimental Physiology 88.1 pp 155-166
© The Physiological Society 2003
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Experimental Physiology, Vol 88, Issue 1, 155-166
Copyright © 2003 by The Physiological Society

Review Article

Mitochondrial diseases--an expanding spectrum of disorders and affected genes

JC von Kleist-Retzow, U Schauseil-Zipf, DV Michalk, and WS Kunz

Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of the mitochondrial DNA (mtDNA) and nuclear gene mutations. The clinical phenotypes are very diverse and the spectrum is still expanding. This review gives an overview of the principal clinical phenotypes and the molecular genetic basis of mitochondrial disorders identified so far.


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Skeletal muscle mitochondrial DNA content in exercising humans
J Appl Physiol, October 1, 2005; 99(4): 1372 - 1377.
[Abstract] [Full Text] [PDF]


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