[Mitochondrial defects].
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
Universitäts-Kinderklinik Nijmegen.
Stadhouders
A M
AM
Trijbels
J M
JM
D000255:Adenosine Triphosphate / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004734:Energy Metabolism; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*
D000255:Adenosine Triphosphate
Mitochondriale Defekte.