引用本文:LiXJ,ZhouNW,XieHL,LiuW,PanCZ,ShuXH.DifferentialdiagnosisofPRKAG2cardiacsyndromeinhypertrophiccardiomyopathypatientsofhannationality.CardiolPlus;6:-40.
AbstractObjectives:ThisstudyaimedtodiversifythespectrumofPRKAG2variantsandexploreitsclinicalfeaturesinaChineseHanpopulationwithhypertrophiccardiomyopathy(HCM).Methods:Whole-exomesequencingwasperformedonpatientsdiagnosedwithHCM,andfourcausativePRKAG2variantswereidentifiedintheprobandsandtheirrelativesusingSangersequencing.Theirclinicalmanifestations,laboratoryexaminations,therapeuticmethods,andout