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GENATLAS PHENOTYPE

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)

Remark(s)