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A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is a common cause of heart failure and sudden cardiac death. It has been estimated that up to half of DCM cases are hereditary. Mutations in more than 50 genes, primarily autosomal dominant, have been reported. Although rare, recessive mutations are thought to contribute...

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Detalles Bibliográficos
Autores principales: Levitas, Aviva, Muhammad, Emad, Zhang, Yuan, Perea Gil, Isaac, Serrano, Ricardo, Diaz, Nashielli, Arafat, Maram, Gavidia, Alexandra A., Kapiloff, Michael S., Mercola, Mark, Etzion, Yoram, Parvari, Ruti, Karakikes, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571691/
https://www.ncbi.nlm.nih.gov/pubmed/32925938
http://dx.doi.org/10.1371/journal.pgen.1009000