Case1: Female, 12 years report, 3 years onset, 12 years diagnosis

CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002650 (Limb-girdle muscle weakness, Respiratory insufficiency, Scoliosis)

HPOsFreeText: 730 CK (U/L), Normal Heart, 0 GAA activity (µmol/L/h), Showed respiratory involvement and required nocturnal non-invasive ventilation, An ambulant patient with 284 m six minute walk distance at the time of diagnosis

CaseNotHPOs: HP:0003457, HP:0001627 (EMG abnormality, Abnormality of the heart)

NotHPOsFreeText: Muscle weakness confined to limb-girdle muscles