5
Case5: Male, 18 years diagnosis, 13 years onset
CasePresentingHPOs: HP:0009073, HP:0003198, HP:0003236, HP:0003327 (Progressive proximal muscle weakness, Myopathy, Increased serum CK, Axial muscle weakness)
HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 586.2 U/L