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References OMIM Gene GeneReviews HGMD HGNC
last update : 27/07/2006
Symbol MHS3
Location 7q21.11
HGNC id 7072
Name malignant hyperthermia susceptibility, 3
Corresponding gene CACNA2D1
Main clinical features
  • anesthesia developed explosive hyperthermia and death
  • malignant hyperpyrexia was often associated with hypertonicity of the voluntary muscles and elevation of serum creatine phosphokinase (CPK), phosphate, and potassium, indicating severe muscle damage
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name voltage-dependent calcium channel, L type,alpha 2, delta subunits (CACNA2D1)