Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy.
Shuhei FujitaRyo NakagawaTakeshi FutataniNoboru IgarashiTakamasa FuchigamiShinsuke SaitoSeiko OhnoMinoru HorieKiyoshi HatasakiPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2020)
CALM mutations cause long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic VF. This patient with a CALM2 p.N98S mutation had both phenotypes of LQTS and CPVT.
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