Myophosphorylase B deficiency and malignant hyperthermia.
A 6-year-old boy was examined with the dual purpose of establishing whether he had malignant hyperthermia (MH) and to investigate his complaint of excessive muscle fatiguability. In the course of such investigations, McArdle's disease was diagnosed, and the patient was also identified as an MH-positive reactor.
Isaacs
H
H
Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.
Badenhorst
M E
ME
Du Sautoy
C
C
D002648:Child; D005221:Fatigue; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D009132:Muscles / Q000503:physiopathology; D010763:Phosphorylase b / Q000172:deficiency*; D006005:Phosphorylases / Q000172:deficiency*
D010763:Phosphorylase b; D006005:Phosphorylases