Fatal lipid storage with abnormal mitochondria in an infant.

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

Fatal lipid storage with abnormal mitochondria in an infant.

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

Istituto di Neuroriabilitazione Motoria San Camillo

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	221-225
Number of pages	5
Journal	Acta neuropathologica. Supplementum
Volume	7
Publication status	Published - 1981

ASJC Scopus subject areas

Medicine(all)

Cite this

@article{cce2a67de578471397ca1da3f45fdce4,

title = "Fatal lipid storage with abnormal mitochondria in an infant.",

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.",

author = "C. Angelini and Battistella, {P. A.} and A. Laverda and S. Pierobon-Bormioli and G. Salviati and L. Vergani",

year = "1981",

language = "English",

volume = "7",

pages = "221--225",

journal = "Acta neuropathologica. Supplementum",

issn = "0065-1435",

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TY - JOUR

T1 - Fatal lipid storage with abnormal mitochondria in an infant.

AU - Angelini, C.

AU - Battistella, P. A.

AU - Laverda, A.

AU - Pierobon-Bormioli, S.

AU - Salviati, G.

AU - Vergani, L.

PY - 1981

Y1 - 1981

N2 - 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.

AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=0019443818&partnerID=8YFLogxK

M3 - Article

C2 - 6939240

AN - SCOPUS:0019443818

VL - 7

SP - 221

EP - 225

JO - Acta neuropathologica. Supplementum

JF - Acta neuropathologica. Supplementum

SN - 0065-1435

ER -

Fatal lipid storage with abnormal mitochondria in an infant.

Abstract

ASJC Scopus subject areas

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