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

Cold Spring Harb Symp Quant Biol. 2002:67:333-7. doi: 10.1101/sqb.2002.67.333.
No abstract available

MeSH terms

  • Adrenergic beta-Antagonists / therapeutic use
  • Base Sequence
  • Calsequestrin / chemistry
  • Calsequestrin / genetics*
  • Calsequestrin / physiology
  • Catecholamines / physiology*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1 / genetics
  • Conserved Sequence
  • DNA / genetics
  • Electrocardiography
  • Ethnicity / genetics
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Israel
  • Male
  • Models, Molecular
  • Mutation, Missense*
  • Polymorphism, Genetic
  • Propranolol / therapeutic use
  • Protein Conformation
  • Tachycardia, Ventricular / drug therapy
  • Tachycardia, Ventricular / genetics*
  • Tachycardia, Ventricular / physiopathology

Substances

  • Adrenergic beta-Antagonists
  • CASQ2 protein, human
  • Calsequestrin
  • Catecholamines
  • DNA
  • Propranolol