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CACNA1S gene mutation
Clinical significance:
- CACNA1S gene mutationsassociated with
a) hypokalemic periodic paralysis
b) susceptibility to malignant hyperthermia 5
Related
voltage-dependent Ca+2 channel alpha-1S (voltage-dependent Ca+2 channel-alpha 1 isoform 3 skeletal muscle, L type, CACNA1S, CACNL1A3, CACH1, CACN1,)
General
gene mutation testing; gene mutation analysis
References
Loinc