[Mitochondrial myopathies].
Mitochondrial myopathies are characterized by structural and functional abnormalities of the mitochondria. The diseases are best classified according to the underlying biochemical defect. In this article the variability of clinical expression and mitochondrial abnormalities is illustrated. An exact diagnosis is a prerequisite for a rational therapy and genetic counseling. In exceptional cases antenatal diagnosis should be possible.
Sengers
R C
RC
Afd. Kindergeneeskunde, Universiteit van Nijmegen.
Stadhouders
A M
AM
Trijbels
J M
JM
D030401:Cytochrome-c Oxidase Deficiency; D005799:Genes, Dominant; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000473:pathology; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology
Mitochondriële myopathieën.