Congenital multicore myopathy with external ophthalmoplegia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
98905MONDO:0009712
RYR1 Causal
12719381 16380615 20301467 20839240
ClinVar, GWAS catalog, Orphanet
All1 Causal1 Unknown0
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Central core disease 1 shared geneRYR1 Related via 1 shared gene including RYR1. Benign samaritan congenital myopathy 1 shared geneRYR1 Related via 1 shared gene including RYR1. RYR1-related myopathy 1 shared geneRYR1 Related via 1 shared gene including RYR1. Malignant hyperthermia 1 shared geneRYR1 Related via 1 shared gene including RYR1. Sacral agenesis 1 shared geneRYR1 Related via 1 shared gene including RYR1.