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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Luis Rocha LopesSoledad Garcia-HernándezMassimiliano LorenziniMarta FutemaOlga ChumakovaDmitry A ZateyshchikovMaria Isidoro-GarciaEduardo VillacortaLuis Escobar-LopezPablo Garcia-PaviaRaquel BilbaoDavid DobarroMaria Sandin-FuentesClaudio CatalliBlanca Gener QuerolAinhoa MezcuaJose Garcia PinillaTorsten B RasmussenAna Ferreira-AguarPablo Revilla-MartíMaria Teresa Basurte ElorzAlicia Bautista PavesJuan Ramon GimenoAna Virginia FigueroaRaul Franco-GutierrezMaria Eugenia Fuentes-CañameroMarina Martinez MorenoMartín Ortiz-GengaJesus Piqueras-FloresKarina Analia RamosAinars RudzitisLuis Ruiz-GuerreroRicardo SteinMayte Triguero-BocharánLuis de la HigueraJuan Pablo OchoaKwaku Dad Abu-BonsrahCecilia Y T KwokJacob B SmithEnzo R PorrelloMohammed Majid AkhtarJoanna JagerMichael AshworthPetros SyrrisDavid A ElliottLorenzo MonserratPerry Mark Elliott
Published in: European heart journal (2021)
Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype.
Keyphrases
  • hypertrophic cardiomyopathy
  • protein kinase
  • left ventricular
  • early onset
  • copy number
  • heart failure
  • gene expression
  • dna methylation