Gene table: search width pubmed_id = 16380615


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

protein
All allelic disease phenotypes - locus/disease symbols
Congenital myopathy 1B, recessive Minicore myopathy with external ophthalmoplegia - (AR)
3.27
12719381
16380615
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
* Dusty core disease related to RYR1 - DuCD
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD