GenTIGSA Gene Database on Rare Genetic Disorders
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Central Core Myopathy  
Disease Aliases (21)

Ccd

Cco

Cnmdu1

Central core disease

Central core disease of muscle

Central core diseases

Central core myopathies

Central core myopathy

Minicore myopathy, moderate, with hand involvement

Multicore myopathy, moderate, with hand involvement

Multiminicore disease, moderate, with hand involvement

Muscle core disease

Muscular central core disease

Myopathies, central core

Myopathy, central core

Myopathy, central fibrillar

Neuromuscular disease, congenital, with uniform type 1 fiber

Shy magee syndrome

Shy-magee syndrome

Syndrome, shy-magee

Central core disease of muscle; ccd

Associated Genes (1)
 

NCBI-RefSeq:  RYR1   (Ryanodine receptor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Central core myopathy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations