Article

Mitochondrial Diseases ‐ An Expanding Spectrum of Disorders and Affected Genes

Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Strase, D-50924 Koln, Germany.
Experimental Physiology (Impact Factor: 2.87). 02/2003; 88(1):155-66. DOI: 10.1113/eph8802509
Source: PubMed

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.

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Available from: Wolfram S Kunz, Apr 15, 2014
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