Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

Tester, David J; Kopplin, Laura J; Will, Melissa L; Ackerman, Michael J

Tester, David J; Kopplin, Laura J; Will, Melissa L; Ackerman, Michael J.

Affiliation

Tester DJ; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Heart Rhythm ; 2(10): 1099-105, 2005 Oct.

Article in En | MEDLINE | ID: mdl-16188589

Subject(s)

Genetic Testing; Long QT Syndrome/genetics; Mutation, Missense/genetics; Ryanodine Receptor Calcium Release Channel/genetics; Adolescent; Adult; Alleles; Child; Cohort Studies; Death, Sudden, Cardiac/etiology; Exercise Test; Family Health; Female; Gene Frequency; Genetic Predisposition to Disease/genetics; Genotype; Humans; Long QT Syndrome/diagnosis; Long QT Syndrome/physiopathology; Male; Middle Aged; Myocardial Contraction/physiology; Phenotype; Polymorphism, Genetic/genetics; Referral and Consultation; Tachycardia, Ventricular/genetics; Tachycardia, Ventricular/physiopathology; Ventricular Fibrillation/genetics; Ventricular Fibrillation/physiopathology

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Collection: 01-internacional Database: MEDLINE Main subject: Long QT Syndrome / Genetic Testing / Ryanodine Receptor Calcium Release Channel / Mutation, Missense Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Heart Rhythm Year: 2005 Type: Article Affiliation country: United States

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