Mitochondrial diseases--an expanding spectrum of disorders and affected genes.
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.
von Kleist-Retzow
Jürgen-Christoph
JC
Department of Pediatrics, University of Cologne, Joseph-Stelzmann-Strase, D-50924 Koln, Germany. juergen-christoph.vonkleist@medizin.uni-koeln.de
Schauseil-Zipf
Ulrike
U
Michalk
Dietrich V
DV
Kunz
Wolfram S
WS
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000145:classification* / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010085:Oxidative Phosphorylation; D010088:Oxidoreductases / Q000378:metabolism
D004272:DNA, Mitochondrial; D010088:Oxidoreductases