Gene table: search width pubmed_id = 12136074


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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, recessive (transient multiminicore myopathy) - (AR)
3.29
12112081
12136074
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Fetal akinesia deformation sequence related to RYR1
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD