GenTIGSA Gene Database on Rare Genetic Disorders
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Multiminicore Myopathy  
Disease Aliases (13)

Congenital multicore myopathy with external ophthalmoplegia

Multicore myopathy

Multiminicore disease with external ophthalmoplegia

Multiminicore myopathy multicore myopathy with external ophthalmoplegia

Minicore disease

Minicore myopathy with external ophthalmoplegia

Multi-minicore disease

Multicore disease

Multicore myopathy with external ophthalmoplegia

Multiminicore disease

Multiminicore myopathy

Minicore myopathy, antenatal onset, with arthrogryposis

Associated Genes (1)
 

NCBI-RefSeq:  RYR1   (Ryanodine receptor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


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