Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
RYR1
Ryanodine receptor 1 (skeletal)




19q13.1
* myopathy, congenital, with fiber-type disproportion - CFTD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Central core disease - CCD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* centronuclear myopathy, recessive - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)