Gene table: search width pubmed_id = 8220422


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Central core disease, dominant - (AD)
3.28
1889818
8220422
8220423
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD