C Angelini, P A Battistella, A Laverda, S Pierobon-Bormioli, G Salviati, L Vergani
{"title":"Fatal lipid storage with abnormal mitochondria in an infant.","authors":"C Angelini, P A Battistella, A Laverda, S Pierobon-Bormioli, G Salviati, L Vergani","doi":"10.1007/978-3-642-81553-9_66","DOIUrl":null,"url":null,"abstract":"<p><p>Biochemical, electron microscopic observations in muscle and liver of an infant dying at 20 months of age of a mitochondrial myopathy are described. Biochemical analysis of tissues revealed low levels of free, esterified and total carnitine and marked decrease of succinic-dehydrogenase activity while cytochrome c-oxidase was normal. Ultrastructural data showed a megaconial myopathy.</p>","PeriodicalId":75397,"journal":{"name":"Acta neuropathologica. Supplementum","volume":"7 ","pages":"221-5"},"PeriodicalIF":0.0000,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neuropathologica. Supplementum","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/978-3-642-81553-9_66","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 3
Abstract
Biochemical, electron microscopic observations in muscle and liver of an infant dying at 20 months of age of a mitochondrial myopathy are described. Biochemical analysis of tissues revealed low levels of free, esterified and total carnitine and marked decrease of succinic-dehydrogenase activity while cytochrome c-oxidase was normal. Ultrastructural data showed a megaconial myopathy.
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