Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia

Circulation

Volumn 114, Issue 10, 2006, Pages 1012-1019

  Di Barletta, Marina Raffaele ^a   Viatchenko Karpinski, Serge ^c   Nori, Alessandra ^d   Memmi, Mirella ^a   Terentyev, Dmitry ^c   Turcato, Federica ^d   Valle, Giorgia ^d   Rizzi, Nicoletta ^a   Napolitano, Carlo ^a   Gyorke, Sandor ^c   Volpe, Pompeo ^d   Priori, Silvia G ^a,b  

^a IRCCS   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c OHIO STATE UNIVERSITY   (United States)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

Calcium; Electrophysiology; Genetics; Tachyarrhythmias

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM ION; CALSEQUESTRIN; COMPLEMENTARY DNA;

ADOLESCENT; ANAMNESIS; ARTICLE; CALCIUM BINDING; CASE REPORT; CATECHOLAMINERGIC SYSTEM; CLINICAL FEATURE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FEMALE; FRAMESHIFT MUTATION; FUNCTIONAL ASSESSMENT; GENE DELETION; GENETIC ANALYSIS; HEART ARREST; HEART VENTRICLE TACHYCARDIA; HOLTER MONITORING; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; STOP CODON;

AMINO ACID SUBSTITUTION; CALSEQUESTRIN; CHILD; FEMALE; GENE TRANSFER TECHNIQUES; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCLE CELLS; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; POINT MUTATION; RATS; SYNCOPE; TACHYCARDIA, VENTRICULAR; TRANSFECTION;

EID: 33748512585     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.106.623793     Document Type: Article

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