A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
Eldar
M
M
Heart Institute, Sheba Medical Center, 52621 Tel Hashomer, Israel.
Pras
E
E
Lahat
H
H
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D001483:Base Sequence; D002155:Calsequestrin / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D002395:Catecholamines / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D017124:Conserved Sequence; D004247:DNA / Q000235:genetics; D004562:Electrocardiography; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007557:Israel; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D011433:Propranolol / Q000627:therapeutic use; D011487:Protein Conformation; D017180:Tachycardia, Ventricular / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology
D000319:Adrenergic beta-Antagonists; C443109:CASQ2 protein, human; D002155:Calsequestrin; D002395:Catecholamines; D004247:DNA; D011433:Propranolol