Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.However, when extracardiac symptoms are atypical or absent, the patient can be bail shoulder bag diagnosed with Catecholaminergic Polymorphic Ventricular Tac