Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?
Forensic Sci Int Genet. 2025 Feb 11;76:103238. doi: 10.1016/j.fsigen.2025.103238. Online ahead of print. ABSTRACT BACKGROUND: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited channelopathy, …