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 |
|---|---|
| Pages (from-to) | 1170-1172 |
| Number of pages | 3 |
| Journal | Archives of Disease in Childhood |
| Volume | 62 |
| Issue number | 11 |
| DOIs | |
| State | Published - Jan 1 1987 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Rheumatology
- Immunology
- Biochemistry, Genetics and Molecular Biology(all)
- Immunology and Allergy
- Pediatrics, Perinatology, and Child Health
Cite this
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 journal › Article
}
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 -