Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

The Nexilin F‐Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z‐disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous varian...

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Detalles Bibliográficos
Autores principales: Johansson, Josefin, Frykholm, Carina, Ericson, Katharina, Kazamia, Kalliopi, Lindberg, Amanda, Mulaiese, Nancy, Falck, Geir, Gustafsson, Per‐Erik, Lidéus, Sarah, Gudmundsson, Sanna, Ameur, Adam, Bondeson, Marie‐Louise, Wilbe, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306924/
https://www.ncbi.nlm.nih.gov/pubmed/35166435
http://dx.doi.org/10.1002/ajmg.a.62685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306924/
https://www.ncbi.nlm.nih.gov/pubmed/35166435
http://dx.doi.org/10.1002/ajmg.a.62685

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