Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Junctophilin-2 (JPH2) is a part of the junctional membrane complex that facilitates calcium-handling in the cardiomyocyte. Previously, missense variants in JPH2 have been linked to hypertrophic cardiomyopathy; however, pathogenic “loss of function” (LOF) variants have not been described. Family-base...

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Detalles Bibliográficos
Autores principales: Jones, Edward G., Mazaheri, Neda, Maroofian, Reza, Zamani, Mina, Seifi, Tahereh, Sedaghat, Alireza, Shariati, Gholamreza, Jamshidi, Yalda, Allen, Hugh D., Wehrens, Xander H. T., Galehdari, Hamid, Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588559/
https://www.ncbi.nlm.nih.gov/pubmed/31227780
http://dx.doi.org/10.1038/s41598-019-44987-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588559/
https://www.ncbi.nlm.nih.gov/pubmed/31227780
http://dx.doi.org/10.1038/s41598-019-44987-6

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