Muscle carnitine deficiency presenting as familial fatal cardiomyopathy

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 languageEnglish
Pages (from-to)1170-1172
Number of pages3
JournalArchives of Disease in Childhood
Volume62
Issue number11
DOIs
StatePublished - Jan 1 1987
Externally publishedYes

Fingerprint

Carnitine
Cardiomyopathies
Muscle
Muscles
Electron microscopy
Electron Microscopy
Electrons
Serum

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy
  • Pediatrics, Perinatology, and Child Health

Cite this

Colin, A., Jaffe, M., Shapira, Y., Ne'eman, Z., Gutman, A., & Korman, S. (1987). Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. Archives of Disease in Childhood, 62(11), 1170-1172. https://doi.org/10.1136/adc.62.11.1170

Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. / Colin, Andrew; Jaffe, M.; Shapira, Y.; Ne'eman, Z.; Gutman, A.; Korman, S.

In: Archives of Disease in Childhood, Vol. 62, No. 11, 01.01.1987, p. 1170-1172.

Research output: Contribution to journalArticle

Colin, A, Jaffe, M, Shapira, Y, Ne'eman, Z, Gutman, A & Korman, S 1987, 'Muscle carnitine deficiency presenting as familial fatal cardiomyopathy', Archives of Disease in Childhood, vol. 62, no. 11, pp. 1170-1172. https://doi.org/10.1136/adc.62.11.1170
Colin, Andrew ; Jaffe, M. ; Shapira, Y. ; Ne'eman, Z. ; Gutman, A. ; Korman, S. / Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. In: Archives of Disease in Childhood. 1987 ; Vol. 62, No. 11. pp. 1170-1172.
@article{18f9cce8c1724293b6dd98826e08938e,
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 = "Andrew Colin and M. Jaffe and Y. Shapira and Z. Ne'eman and A. Gutman and S. Korman",
year = "1987",
month = "1",
day = "1",
doi = "10.1136/adc.62.11.1170",
language = "English",
volume = "62",
pages = "1170--1172",
journal = "Archives of Disease in Childhood",
issn = "0003-9888",
publisher = "BMJ Publishing Group",
number = "11",

}

TY - JOUR

T1 - Muscle carnitine deficiency presenting as familial fatal cardiomyopathy

AU - Colin, Andrew

AU - Jaffe, M.

AU - Shapira, Y.

AU - Ne'eman, Z.

AU - Gutman, A.

AU - Korman, S.

PY - 1987/1/1

Y1 - 1987/1/1

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.

UR - http://www.scopus.com/inward/record.url?scp=0023618030&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023618030&partnerID=8YFLogxK

U2 - 10.1136/adc.62.11.1170

DO - 10.1136/adc.62.11.1170

M3 - Article

C2 - 3688923

AN - SCOPUS:0023618030

VL - 62

SP - 1170

EP - 1172

JO - Archives of Disease in Childhood

JF - Archives of Disease in Childhood

SN - 0003-9888

IS - 11

ER -