Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05
Variant appearance in text: MYH7: 902T>A; Leu301Gln
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Engelen, K K; Postma, A V AV; van de Meerakker, J B A JB; Roos-Hesselink, J W JW; Helderman-van den Enden, A T J M AT; Vliegen, H W HW; Rahman, T T; Baars, M J H MJ; Sels, J-W JW; Bauer, U U; Pickardt, T T; Sperling, S R SR; Moorman, A F M AF; Keavney, B B; Goodship, J J; Klaassen, S S; Mulder, B J M BJ