Article Text

Download PDFPDF

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


    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.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.