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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Veröffentlicht in:PLoS Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2020
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Research Article
Online Zugang: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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