PatientF1P1: Female, 30 years onset, 40 years diagnosis, Caucasian

CasePresentingHPOs: HP:0007340, HP:0002172 (Leg weakness, Postural instability)

HPOsFreeText: History of hyperCKemia greater than 1,000 U/L (control 30–220 U/L), Showed deficient muscle acid GAA activity (0.05 µmol/min/g, control >0.42 µmol/min/g)

CaseAddInfo: First cousin twice removed of F1P3, Proband