User: Guest  Login
Document type:
journal article 
Author(s):
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,...    »
 
Title:
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 
Abstract:
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 co...    »
 
Journal title abbreviation:
Circ Cardiovasc Genet 
Year:
2014 
Journal volume:
Journal issue:
Pages contribution:
466-74 
Language:
eng 
Print-ISSN:
1942-325X 
TUM Institution:
Institut für Humangenetik