Article
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Human mutation - 1 Sept 2011
Roux-Buisson Nathalie, Rendu John, Denjoy Isabelle, Guicheney Pascale, Goldenberg Alice, David Nadine, Faivre Laurence, Barthez Olivier, Danieli Gian Antonio, Marty Isabelle, Lunardi Joel, Fauré Julien
Abstract excerpt
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT. We performed molecular analysis of the CASQ2 gene in 43 probands with CPVT and identified eight mutations in five...
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