[Morphology of metabolic myopathies].
While muscular lesions in endocrine or metabolic diseases are fairly common primary metabolic myopathies are rare. In these, the metabolic fault is in the muscle fibre itself, which takes on a vacuolated appearance. In the majority of these myopathies there is an abnormality of the glycogen or fat metabolism due to the absence of a specific enzyme in most cases. By contrast, the pathogenesis of the so called mitochondrial myopathies is not yet well understood.
D002331:Carnitine / Q000172:deficiency; D006009:Glycogen Storage Disease Type II / Q000473:pathology; D006010:Glycogen Storage Disease Type III / Q000473:pathology; D006011:Glycogen Storage Disease Type IV / Q000473:pathology; D006012:Glycogen Storage Disease Type V / Q000473:pathology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000378:metabolism / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000473:pathology*
D002331:Carnitine
Zur Morphologie metabolischer Myopathien.