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Fatal cases of lipid storage myopathy with carnitine deficiency.
  1. F Cornelio,
  2. S Di Donato,
  3. D Peluchetti,
  4. A Bizze,
  5. B Bertagnolio,
  6. A D'Angelo,
  7. U Wiesmann

    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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