FATAL INFANTILE HYPERTROPHIC CARDIOMYOPATHY SECONDARY TO DEFICIENCY OF HEART SPECIFIC PHOSPHORYLASE-B KINASE

被引：16
|
作者：
ELLEDER, M
SHIN, YS
ZUNTOVA, A
VOJTOVIC, P
CHALUPECKY, V
机构：
[1] UNIV MUNICH, CHILDRENS HOSP, W-8000 MUNICH 2, GERMANY
[2] UNIV HOSP MOTOL, DEPT PATHOL, PRAGUE, CZECHOSLOVAKIA
[3] UNIV HOSP MOTOL, CTR PAEDIAT CARDIOL & SURG, PRAGUE, CZECHOSLOVAKIA
来源：
VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY | 1993年 / 423卷 / 04期
关键词：
PHOSPHORYLASE-B KINASE DEFICIENCY; GLYCOGEN STORAGE DISEASE; HYPERTROPHIC CARDIOMYOPATHY;
D O I：
10.1007/BF01606895
中图分类号：
R602 [外科病理学、解剖学]; R32 [人体形态学];
学科分类号：
100101 ;
摘要：
We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
引用
收藏
页码：303 / 307
页数：5
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