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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.

    Abstract

    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.

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