Fatal lipid storage with abnormal mitochondria in an infant.

C. Angelini, P. A. Battistella, A. Laverda, S. Pierobon-Bormioli, G. Salviati, L. Vergani

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)221-225
Number of pages5
JournalActa neuropathologica. Supplementum
Volume7
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Medicine(all)

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