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Updated: Aug 15, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Muscle carnitine deficiency presenting as familial fatal cardiomyopathy
A A Colin1, M Jaffe, Y Shapira
1Department 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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