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New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis.
Original languageEnglish
JournalCirculation. Cardiovascular genetics
Volume6
Issue number5
Pages (from-to)481-9
Number of pages9
ISSN1942-325X
DOIs
Publication statusPublished - Oct 2013

ID: 42919809