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.

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收藏

页码：303 / 307

页数：5

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