Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.
Shin
Y S
YS
Children's Hospital, University of Munich, Germany.
Plöchl
E
E
Podskarbi
T
T
Muss
W
W
Pilz
P
P
Puttinger
R
R
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*
D010764:Phosphorylase Kinase