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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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7571691/
https://ncbi.nlm.nih.gov/pubmed/32925938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009000
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