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SPECTRUM AND PREVALENCE OF CARDIAC RYANODINE RECEPTOR (RYR2) AND KIR2.1 (KCNJ2) MUTATIONS IN PATIENTS REFERRED FOR FAMILION® CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) GENETIC TESTING
- Source :
- Journal of the American College of Cardiology. (13):E722
- Publisher :
- American College of Cardiology Foundation. Published by Elsevier Inc.
-
Abstract
- Cardiac ryanodine receptor (RYR2) and Kir2.1 (KCNJ2) mutations are a cause of catecholaminergic polymorphic ventricular tachycardia (CPVT), a lethal cardiac channelopathy. Here, we describe mutations in RYR2 and KCNJ2 in patients referred for FAMILION CPVT genetic testing. Sequence analysis of 38
- Subjects :
- medicine.medical_specialty
medicine.diagnostic_test
business.industry
Ryanodine receptor
Kir2.1
Catecholaminergic polymorphic ventricular tachycardia
medicine.disease
musculoskeletal system
Ryanodine receptor 2
Internal medicine
Cardiology
cardiovascular system
Medicine
In patient
business
Cardiology and Cardiovascular Medicine
tissues
Genetic testing
Cardiac channelopathy
Subjects
Details
- Language :
- English
- ISSN :
- 07351097
- Issue :
- 13
- Database :
- OpenAIRE
- Journal :
- Journal of the American College of Cardiology
- Accession number :
- edsair.doi.dedup.....019b0e500e7a9af073bc0b793a9817e5
- Full Text :
- https://doi.org/10.1016/S0735-1097(12)60723-2