cardiomyopathies

Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
Pratul Kumar Jain, Shashank Jayappa, Thiagarajan Sairam, Anupam Mittal, Sayan Paul, Vinay J Rao, Harshil Chittora, Deepak K Kashyap, Dasaradhi Palakodeti, Kumarasamy Thangaraj, Jayaprakash Shenthar, Rakesh Koranchery, Ranjith Rajendran, Haghighi Alireza, Kurukkanparampil Sreedharan Mohanan, Andiappan Rathinavel, Perundurai S Dhandapany

Journal of Medical Genetics Oct 2022, 59 (10) 984-992; DOI: 10.1136/jmedgenet-2021-107866
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes
Ella Field, Gabrielle Norrish, Vanessa Acquaah, Kathleen Dady, Marcos Nicolas Cicerchia, Juan Pablo Ochoa, Petros Syrris, Karen McLeod, Ruth McGowan, Hannah Fell, Luis R Lopes, Elena Cervi, Juan Pablo Pablo Kaski

Journal of Medical Genetics Aug 2022, 59 (8) 768-775; DOI: 10.1136/jmedgenet-2021-107774
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
Christoffer Rasmus Vissing, Torsten Bloch Rasmussen, Anne Mette Dybro, Morten Salling Olesen, Lisbeth Nørum Pedersen, Morten Jensen, Henning Bundgaard, Alex Hørby Christensen

Journal of Medical Genetics Dec 2021, 58 (12) 832-841; DOI: 10.1136/jmedgenet-2020-107178

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