Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

Nuclear envelope proteins have been shown to play an important role in the pathogenesis of inherited dilated cardiomyopathy. Here, we present a remarkable cardiac phenotype caused by a homozygous LEMD2 mutation in patients of the Hutterite population with juvenile cataract. Mutation carriers develop...

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Detalles Bibliográficos
Autores principales: Abdelfatah, Nelly, Chen, Ruping, Duff, Henry J., Seifer, Colette M., Buffo, Ilan, Huculak, Cathleen, Clarke, Stephanie, Clegg, Robin, Jassal, Davinder S., Gordon, Paul M.K., Ober, Carole, Frosk, Patrick, Gerull, Brenda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
PRECLINICAL RESEARCH
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488817/
https://www.ncbi.nlm.nih.gov/pubmed/31061923
http://dx.doi.org/10.1016/j.jacbts.2018.12.001

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