Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

• Published in: Circulation. Cardiovascular genetics Vol. 7; no. 4; pp. 466 - 474
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States 01.08.2014
• Subjects: Adrenergic beta-Antagonists - therapeutic use; Adult; Age of Onset; Amino Acid Sequence; Calcium - chemistry; Calcium - metabolism; Calmodulin - genetics; Calmodulin - metabolism; Child; Child, Preschool; Electrocardiography; Female; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Infant; Long QT Syndrome - drug therapy; Long QT Syndrome - genetics; Long QT Syndrome - pathology; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Protein Binding; Sequence Analysis, DNA; Tachycardia, Ventricular - drug therapy; Tachycardia, Ventricular - genetics; Tachycardia, Ventricular - pathology; long QT syndrome; calmodulin

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)...