Article
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Circulation. Cardiovascular genetics - 1 Aug 2014
Makita Naomasa, Yagihara Nobue, Crotti Lia, Johnson Christopher N, Beckmann Britt-Maria, Roh Michelle S, Shigemizu Daichi, Lichtner Peter, Ishikawa Taisuke, Aiba Takeshi, Homfray Tessa, Behr Elijah R, Klug Didier, Denjoy Isabelle, Mastantuono Elisa, Theisen Daniel, Tsunoda Tatsuhiko, Satake Wataru, Toda Tatsushi, Nakagawa Hidewaki, Tsuji Yukiomi, Tsuchiya Takeshi, Yamamoto Hirokazu, Miyamoto Yoshihiro, Endo Naoto, Kimura Akinori, Ozaki Kouichi, Motomura Hideki, Suda Kenji, Tanaka Toshihiro, Schwartz Peter J, Meitinger Thomas, Kääb Stefan, Guicheney Pascale, Shimizu Wataru, Bhuiyan Zahurul A, Watanabe Hiroshi, Chazin Walter J, George Alfred L
Abstract excerpt
BACKGROUND: Genetic predisposition to life-threatening cardiac arrhythmias such as congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) represent treatable causes of sudden cardiac death in young adults and children. Recently, mutations in calmodulin (CALM1, CALM2) have been associated with severe forms of LQTS and CPVT, with life-threatening arrhythmias occurring...
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