23
Case23: Female, 1 yr onset, 1.9 yr diagnosis, 12.5 yr report
CasePresentingHPOs: HP:0002650 (Scoliosis)
HPOsFreeText: Wheelchair used at 6 yr, Respiratory support used at 6 yr, 10% MRC Scale, 1381 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts