Article Text


Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.
  1. A A Colin,
  2. M Jaffe,
  3. Y Shapira,
  4. Z Ne'eman,
  5. A Gutman,
  6. S Korman
  1. Department of Paediatrics, Haifa City Medical Centre (Rothschild), Israel.


    Three siblings presented with fatal cardiomyopathy confirmed by electron microscopy, and normal serum but low muscle carnitine concentrations. A fourth had similar signs but remained asymptomatic. He was treated with carnitine orally which increased the concentration in muscle, though it remained below normal. Electron microscopic features were unchanged.

    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.