Central core myopathy

MONDO:0007294

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, CCD, Cco, Shy-Magee syndrome, central CORE disease of muscle, minicore myopathy, moderate, with hand involvement, multicore myopathy, moderate, with hand involvement, multiminicore disease, moderate, with hand involvement

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