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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Antzelevitch C, et al. Among authors: bonaros ep jr. Circulation. 2007 Jan 30;115(4):442-9. doi: 10.1161/CIRCULATIONAHA.106.668392. Epub 2007 Jan 15. Circulation. 2007. PMID: 17224476 Free PMC article.