title: Myopathological findings in progressive myoclonus epilepsy.
abstract: 8 patients with progressive myoclonic epilepsy have been studied. Muscle biopsies showed polysaccharide accumulation in branched form, mitochondrial alteration, lipid droplets and lipofucsin bodies. " Muscle Lafora bodies" were present in two cases. A peculiar muscle cytoskeleton appearance has been seen, suggesting an abnormal physico-chemical state of the newly observed filaments that joins Z-bands among them and with the plasma membrane.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004831:Epilepsies, Myoclonic / Q000473:pathology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure; D011134:Polysaccharides / Q000378:metabolism
chemical_list: D011134:Polysaccharides