central core myopathy https://www.malacards.org/card/congenital_myopathy_1a https://www.malacards.org/card/congenital_myopathy_1a_autosomal_dominant_with_malignant_hyperthermia UMLS:C5830701 CCD neuromuscular disease, congenital, with uniform type 1 Fibre SCTID:43152001 An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. myopathy, central core Shy-Magee syndrome NANDO:1200479 EFO:1000855 muscular central core disease central core disease muscle core disease MEDGEN:1841337 myopathy, central fibrillar central CORE disease of muscle NCIT:C83010 DOID:3529 OMIM:117000 MESH:D020512 NANDO:2200870 MONDO:0007294 Orphanet:597 icd11.foundation:2065822840 GARD:0006014 myofibrillar myopathy RYR1-related myopathy TPM2-related myopathy