FAMILIAL HYPERTROPHIC CARDIOMYOPATHY AND MUSCLE CARNITINE DEFICIENCY

被引：7
|
作者：
BAUTISTA, J
RAFEL, E
MARTINEZ, A
SAINZ, I
HERRERA, J
SEGURA, L
CHINCHON, I
机构：
[1] HOSP VIRGEN DEL ROCIO,DEPT PATHOL,SEVILLE,SPAIN
[2] HOSP VIRGEN DEL ROCIO,DEPT CARDIOL,SEVILLE,SPAIN
[3] HOSP VIRGEN DEL ROCIO,DEPT BIOCHEM,SEVILLE,SPAIN
来源：
MUSCLE & NERVE | 1990年 / 13卷 / 03期
关键词：
carnitine deficiency; familial cardiomyopathy; skeletal muscle biopsy;
D O I：
10.1002/mus.880130303
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment withL‐carnitine, 3–4 g daily, and a long‐chain fattyacid‐free diet. Copyright © 1990 John Wiley & Sons, Inc.
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页码：192 / 194
页数：3
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