title: Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
abstract: 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.
authors.affiliation: 1st Institute of Pathology, School of Medicine I, Charles University, Prague, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Elleder
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: A
authors.initials: A
authors.lastname: Zuntová
authors.forename: P
authors.initials: P
authors.lastname: Vojtovic
authors.forename: V
authors.initials: V
authors.lastname: Chalupecký
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology*; D017809:Fatal Outcome; D006008:Glycogen Storage Disease / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D010764:Phosphorylase Kinase / Q000172:deficiency*; D011859:Radiography
chemical_list: D010764:Phosphorylase Kinase