A novel RYR2-A4510T variant has been identified, presenting both as autosomal dominant and autosomal recessive forms of catecholaminergic polymorphic ventricular tachycardia. This discovery enhances understanding of the genetic underpinnings of this arrhythmia.
novel ryr2 a4510t variant presenting both as autosomal dominant and autosomal recessive catecholaminergic polymorphic ventricular tachycardia
Original title: “Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.”