Muscle carnitine deficiency presenting as familial fatal cardiomyopathy

A. A. Colin, M. Jaffe, Y. Shapira, Z. Ne'eman, A. Gutman, S. Korman

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1170-1172
Number of pages3
JournalArchives of Disease in Childhood
Issue number11
StatePublished - 1987
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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