Central core myopathy
Central core myopathy
Definition
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.
Also known as central core disease — per MONDO
Also identified as
- DOID 3529 per MONDO
- MESH D020512 per MONDO
- NCIT C83010 per MONDO
- OMIM 117000 per MONDO
- Orphanet 597 per MONDO
- SCTID 43152001 per MONDO
- UMLS C5830701 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |