S Pierobon-Bormioli, C Angelini, M Armani, G F Testa
{"title":"Myopathological findings in progressive myoclonus epilepsy.","authors":"S Pierobon-Bormioli, C Angelini, M Armani, G F Testa","doi":"10.1007/978-3-642-81553-9_96","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":75397,"journal":{"name":"Acta neuropathologica. Supplementum","volume":"7 ","pages":"334-7"},"PeriodicalIF":0.0000,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"7","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neuropathologica. Supplementum","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/978-3-642-81553-9_96","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 7
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.
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