Fatal cases of lipid storage myopathy with carnitine deficiency.
Open Access
- 1 February 1977
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 40 (2), 170-178
- https://doi.org/10.1136/jnnp.40.2.170
Abstract
Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy was ineffective in the only case treated. The relationship of the present cases with the syndrome of lipid storage myopathy and carnitine deficiency is discussed.This publication has 20 references indexed in Scilit:
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