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Mitochondrial diseases - an expanding spectrum of disorders and affected genes

Published online by Cambridge University Press:  09 January 2003

Jürgen-Christoph von Kleist-Retzow ,
Ulrike Schauseil-Zipf ,
Dietrich V. Michalk  and
Wolfram S. Kunz
Jürgen-Christoph von Kleist-Retzow
Affiliation:
Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Straße, D-50924 Köln, Germany and Department of Epileptology, University Bonn Medical Center, Sigmund-Freud-Straße 25, D-53105 Bonn, Germany
Ulrike Schauseil-Zipf
Affiliation:
Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Straße, D-50924 Köln, Germany and Department of Epileptology, University Bonn Medical Center, Sigmund-Freud-Straße 25, D-53105 Bonn, Germany
Dietrich V. Michalk
Affiliation:
Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Straße, D-50924 Köln, Germany and Department of Epileptology, University Bonn Medical Center, Sigmund-Freud-Straße 25, D-53105 Bonn, Germany
Wolfram S. Kunz
Affiliation:
Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Straße, D-50924 Köln, Germany and Department of Epileptology, University Bonn Medical Center, Sigmund-Freud-Straße 25, D-53105 Bonn, Germany
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Abstract

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. Experimental Physiology (2003) 88.1, 155-166.

Type
Special Review Series - Biogenesis and Physiological Adaptation of Mitochondria
Information
Experimental Physiology , Volume 88 , Issue 1 , January 2003 , pp. 155 - 166
Copyright
© The Physiological Society 2003

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