Title |
Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility
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Published in |
Circulation: Genomic and Precision Medicine, June 2014
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DOI | 10.1161/circgenetics.113.000459 |
Pubmed ID | |
Authors |
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 J Chazin, Alfred L George |
Abstract |
-Genetic predisposition to life-threatening cardiac arrhythmias such as in 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Comoros | 1 | 33% |
Canada | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | <1% |
Netherlands | 1 | <1% |
Switzerland | 1 | <1% |
Unknown | 135 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 27 | 20% |
Researcher | 19 | 14% |
Professor | 11 | 8% |
Student > Bachelor | 11 | 8% |
Other | 9 | 7% |
Other | 25 | 18% |
Unknown | 36 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 37 | 27% |
Biochemistry, Genetics and Molecular Biology | 24 | 17% |
Agricultural and Biological Sciences | 18 | 13% |
Chemistry | 6 | 4% |
Immunology and Microbiology | 2 | 1% |
Other | 10 | 7% |
Unknown | 41 | 30% |