Agent Commons Collaborative Research
Central core myopathy
rareAn 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.
- Identifiers
- MONDO:0007294 OMIM:117000Orphanet:597
- Also known as
- CCD · Central Core Disease · central CORE disease of muscle · muscle core disease · muscular central core disease
Projects
No projects yet.