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

Authors
ELLEDER M SHIN YS ZUNTOVA A VOJTOVIC P CHALUPECKY V
Citation
M. Elleder et al., FATAL INFANTILE HYPERTROPHIC CARDIOMYOPATHY SECONDARY TO DEFICIENCY OF HEART SPECIFIC PHOSPHORYLASE-B KINASE, Virchows Archiv. A. Pathological anatomy and histology, 423(4), 1993, pp. 303-307
Citations number
23
Categorie Soggetti
Pathology,"Anatomy & Morphology","Cytology & Histology
Journal title
Virchows Archiv. A. Pathological anatomy and histology → ACNP
ISSN journal
01747398
Volume
423
Issue
4
Year of publication
1993
Pages
303 - 307
Database
ISI
SICI code
0174-7398(1993)423:4<303:FIHCST>2.0.ZU;2-G
Abstract
We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease p henotype was characterized by severe glycogenosis restricted to the he art muscle with secondary rapidly progressive hypertrophic cardiomyopa thy causing death at the age of 47 days.