Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility | Zendy

Naomasa Makita | Zendy; Nobue Yagihara | Zendy; Lia Crotti | Zendy; Christopher N. Johnson | Zendy; Britt Maria Beckmann | Zendy; Michelle S. Roh | Zendy; Daichi Shigemizu | Zendy; Peter Lichtner | Zendy; Taisuke Ishikawa | Zendy; Takeshi Aiba | Zendy; Tessa Homfray | Zendy; Elijah R. Behr | Zendy; Didier Klug | Zendy; Isabelle Denjoy | Zendy; Elisa Mastantuono | Zendy; Daniel Theisen | Zendy; Tatsuhiko Tsunoda | Zendy; Wataru Satake | Zendy; Tatsushi Toda | Zendy; Hidewaki Nakagawa | Zendy; Yukiomi Tsuji | Zendy; Takeshi Tsuchiya | Zendy; Hirokazu Yamamoto | Zendy; Yoshihiro Miyamoto | Zendy; Naoto Endo | Zendy; Akinori Kimura | Zendy; Kouichi Ozaki | Zendy; Hideki Motomura | Zendy; Kenji Suda | Zendy; Toshihiro Tanaka | Zendy; Peter J. Schwartz | Zendy; Thomas Meitinger | Zendy; Stefan Kääb | Zendy; Pascale Guicheney | Zendy; Wataru Shimizu | Zendy; Zahurul A. Bhuiyan | Zendy; Hiroshi Watanabe | Zendy; Walter Chazin | Zendy; Alfred L. George | Zendy

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Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

Author(s) -

Naomasa Makita,

Nobue Yagihara,

Lia Crotti,

Christopher N. Johnson,

Britt Maria Beckmann,

Michelle S. Roh,

Daichi Shigemizu,

Peter Lichtner,

Taisuke Ishikawa,

Takeshi Aiba,

Tessa Homfray,

Elijah R. Behr,

Didier Klug,

Isabelle Denjoy,

Elisa Mastantuono,

Daniel Theisen,

Tatsuhiko Tsunoda,

Wataru Satake,

Tatsushi Toda,

Hidewaki Nakagawa,

Yukiomi Tsuji,

Takeshi Tsuchiya,

Hirokazu Yamamoto,

Yoshihiro Miyamoto,

Naoto Endo,

Akinori Kimura,

Kouichi Ozaki,

Hideki Motomura,

Kenji Suda,

Toshihiro Tanaka,

Peter J. Schwartz,

Thomas Meitinger,

Stefan Kääb,

Pascale Guicheney,

Wataru Shimizu,

Zahurul A. Bhuiyan,

Hiroshi Watanabe,

Walter Chazin,

Alfred L. George

Publication year - 2014

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.113.000459

Subject(s) - catecholaminergic polymorphic ventricular tachycardia , missense mutation , medicine , long qt syndrome , proband , sudden cardiac death , sudden death , ryanodine receptor 2 , mutation , genotype , cardiology , genetics , endocrinology , biology , qt interval , receptor , ryanodine receptor , gene

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 very early in life. Additional mutation-positive cases are needed to discern genotype-phenotype correlations associated with calmodulin mutations.

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