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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.
J Am Coll Cardiol. 2009.
PMID: 19926015
Free PMC article.
Deadly proposal: a case of catecholaminergic polymorphic ventricular tachycardia.
Heiner JD, Bullard-Berent JH, Inbar S.
Heiner JD, et al.
Pediatr Emerg Care. 2011 Nov;27(11):1065-8. doi: 10.1097/PEC.0b013e3182360606.
Pediatr Emerg Care. 2011.
PMID: 22068070
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Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R.
Wangüemert F, et al.
Heart Rhythm. 2015 Jul;12(7):1636-43. doi: 10.1016/j.hrthm.2015.03.033. Epub 2015 Mar 23.
Heart Rhythm. 2015.
PMID: 25814417
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CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression.
Liu Y, Wei J, Wong King Yuen SM, Sun B, Tang Y, Wang R, Van Petegem F, Chen SRW.
Liu Y, et al.
PLoS One. 2017 Sep 29;12(9):e0184177. doi: 10.1371/journal.pone.0184177. eCollection 2017.
PLoS One. 2017.
PMID: 28961276
Free PMC article.
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