Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

PURPOSE: Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy. METHODS: E...

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Detalles Bibliográficos
Autores principales: Osborn, Daniel Peter Sayer, Emrahi, Leila, Clayton, Joshua, Tabrizi, Mehrnoush Toufan, Wan, Alex Yui Bong, Maroofian, Reza, Yazdchi, Mohammad, Garcia, Michael Leon Enrique, Galehdari, Hamid, Hesse, Camila, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Goullée, Hayley, Laing, Nigel, Jamshidi, Yalda, Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026398/
https://www.ncbi.nlm.nih.gov/pubmed/33288880
http://dx.doi.org/10.1038/s41436-020-01028-2

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