DISEASES

Disease-gene associations mined from literature

Human genes for central core myopathy

Central core myopathy [DOID:3529]

Central core disease (CCD), also known as central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.

Synonyms:  central core myopathy,  DOID:3529,  central core disease,  central core disease (disorder),  central core disorder ...

Linkouts:  OMIM