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Up to: RYR1-related myopathy · TPM2-related myopathy · Myofibrillar myopathy

Central core myopathy

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.

2 trials tagged with this condition →

This condition has no sub-types.