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Mitochondrial Diseases ‐ An Expanding Spectrum of Disorders and Affected Genes
Author(s) -
KleistRetzow JürgenChristoph,
SchauseilZipf Ulrike,
Michalk Dietrich V.,
Kunz Wolfram S.
Publication year - 2003
Publication title -
experimental physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.925
H-Index - 101
eISSN - 1469-445X
pISSN - 0958-0670
DOI - 10.1113/eph8802509
Subject(s) - mitochondrial dna , phenotype , biology , genetics , mitochondrial disease , gene , mitochondrion , nuclear gene , human mitochondrial genetics , oxidative phosphorylation , mutation , dnaja3 , bioinformatics , mitochondrial fusion , biochemistry
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.