Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: Leaky RyR2 channels under non-stress conditions

International Journal of Cardiology

Volumn 180, Issue , 2015, Pages 228-236

  Cheung, Jim W ^a   Meli, Albano C ^b,c   Xie, Wenjun ^c   Mittal, Suneet ^d   Reiken, Steven ^c   Wronska, Anetta ^c   Xu, Linna ^a   Steinberg, Jonathan S ^d   Markowitz, Steven M ^a   Iwai, Sei ^e   Lacampagne, Alain ^b   Lerman, Bruce B ^a   Marks, Andrew R ^c  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b UNIV MONTPELLIER   (France)

^c Columbia University ^*  (United States)

^d Valley Health System   (United States)

^e WESTCHESTER MEDICAL CENTER   (United States)

Author keywords

Genetics; Polymorphic ventricular tachycardia; Ryanodine receptor; Syncope

Indexed keywords

CALSTABIN2; CYCLIC AMP DEPENDENT PROTEIN KINASE; PEPTIDES AND PROTEINS; RYANODINE RECEPTOR 2; UNCLASSIFIED DRUG; DNA; RYANODINE RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CASE REPORT; CONTROLLED STUDY; ENZYME PHOSPHORYLATION; FAINTNESS; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; MUTATIONAL ANALYSIS; PATHOGENESIS; POINT MUTATION; POLYMORPHIC VENTRICULAR TACHYCARDIA; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN EXPRESSION; RYR2 GENE; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; REST;

ADULT; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; REST; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACHYCARDIA, VENTRICULAR;

EID: 84920516886     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2014.11.119     Document Type: Article

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