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Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Cannie DE, et al. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. Eur Heart J. 2023. PMID: 37639473 Free PMC article.
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Cannie DE, Protonotarios A, Bakalakos A, Syrris P, Lorenzini M, De Stavola B, Bjerregaard L, Dybro AM, Hey TM, Hansen FG, Navarro Peñalver M, Crespo-Leiro MG, Larrañaga-Moreira JM, de Frutos F, Johnson R, Slater TA, Monserrat L, Sengupta A, Mestroni L, Taylor MRG, Sinagra G, Bilinska Z, Solla-Ruiz I, Arana Achaga X, Barriales-Villa R, Garcia-Pavia P, Gimeno JR, Dal Ferro M, Merlo M, Wahbi K, Fatkin D, Mogensen J, Rasmussen TB, Elliott PM. Cannie DE, et al. Circ Genom Precis Med. 2023 Oct;16(5):434-441. doi: 10.1161/CIRCGEN.123.004059. Epub 2023 Aug 18. Circ Genom Precis Med. 2023. PMID: 37593875 Free PMC article.
Hidden in Heart Failure.
Cannie DE, Akhtar MM, Elliott P. Cannie DE, et al. Eur Cardiol. 2019 Jul 11;14(2):89-96. doi: 10.15420/ecr.2019.19.2. eCollection 2019 Jul. Eur Cardiol. 2019. PMID: 31360229 Free PMC article. Review.