Muscle carnitine deficiency presenting as familial fatal cardiomyopathy

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

doi:10.1136/adc.62.11.1170

Muscle carnitine deficiency presenting as familial fatal cardiomyopathy

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1170-1172
Number of pages	3
Journal	Archives of Disease in Childhood
Volume	62
Issue number	11
DOIs	https://doi.org/10.1136/adc.62.11.1170
State	Published - 1987

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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title = "Muscle carnitine deficiency presenting as familial fatal cardiomyopathy",

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.",

author = "Colin, {A. A.} and M. Jaffe and Y. Shapira and Z. Ne'eman and A. Gutman and S. Korman",

year = "1987",

doi = "10.1136/adc.62.11.1170",

language = "English (US)",

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AU - Colin, A. A.

AU - Jaffe, M.

AU - Shapira, Y.

AU - Ne'eman, Z.

AU - Gutman, A.

AU - Korman, S.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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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