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.
|Number of pages||4|
|Journal||Acta neuropathologica. Supplementum|
|Publication status||Published - 1981|
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