Rare Disease Library

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

Cap myopathy

Cap disease

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy