title: Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.
authors.affiliation: Children's Hospital, University of Munich, Germany.
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: E
authors.initials: E
authors.lastname: Plöchl
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
authors.forename: W
authors.initials: W
authors.lastname: Muss
authors.forename: P
authors.initials: P
authors.lastname: Pilz
authors.forename: R
authors.initials: R
authors.lastname: Puttinger
mesh_terms: D001176:Arthrogryposis / Q000201:enzymology / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology*; D010764:Phosphorylase Kinase / Q000172:deficiency*; D012131:Respiratory Insufficiency / Q000201:enzymology / Q000235:genetics*
chemical_list: D010764:Phosphorylase Kinase