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Case Reports
. 1977 Feb;40(2):170-8.
doi: 10.1136/jnnp.40.2.170.

Fatal cases of lipid storage myopathy with carnitine deficiency

F Cornelio, S Di Donato, D Peluchetti, A Bizze, B Bertagnolio, A D'Angelo, U Wiesmann
Case Reports

Fatal cases of lipid storage myopathy with carnitine deficiency

F Cornelio et al. J Neurol Neurosurg Psychiatry. 1977 Feb.

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.

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References

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