Fatal lipid storage myopathy in an infant: case report and autopsy findings.
J Neurol Sci, 1979/3;41(1):93-100.
PMID: 438846
Impact factor: 4.553
Abstract
The clinical presentation, muscle biopsy appearances and autopsy findings in a male infant dying at the age of 13 weeks with a lipid storage myopathy are described. The primary metabolic abnormality was not elucidated but was thought not to be carnitine deficiency.
MeSH terms
Biopsy; Carnitine; Humans; Infant; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Muscle Hypotonia; Muscles; Muscular Atrophy; Respiratory Insufficiency; Succinate Dehydrogenase
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