RS118192174 RYR1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Congenital multicore myopathy with external ophthalmoplegia
Clubfoot
EMG abnormality
Lower limb amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
King Denborough syndrome
Central core myopathy
Malignant hyperthermia
susceptibility to
1
Neuromuscular disease
Congenital multicore myopathy with external ophthalmoplegia
Clubfoot
EMG abnormality
Other Variants in RYR1