Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3(Δ25bp)Intronic Deletion in South Asian Descendants

IMPORTANCE: The genetic variant MYBPC3(Δ25bp) occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 (Δ25bp) has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3(Δ25bp) suggests that other stressors act in concert with...

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Publicat a:JAMA Cardiol
Autors principals: Viswanathan, Shiv Kumar, Puckelwartz, Megan J., Mehta, Ashish, Ramachandra, Chrishan J. A., Jagadeesan, Aravindakshan, Fritsche-Danielson, Regina, Bhat, Ratan V., Wong, Philip, Kandoi, Sangeetha, Schwanekamp, Jennifer A., Kuffel, Gina, Pesce, Lorenzo L., Zilliox, Michael J., Durai, U. Nalla B., Verma, Rama Shanker, Molokie, Robert E., Suresh, Domodhar P., Khoury, Philip R., Thomas, Annie, Sanagala, Thriveni, Tang, Hak Chiaw, Becker, Richard C., Knöll, Ralph, Shim, Winston, McNally, Elizabeth M., Sadayappan, Sakthivel
Format: Artigo
Idioma:Inglês
Publicat: American Medical Association 2018
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054452/
https://ncbi.nlm.nih.gov/pubmed/29641836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamacardio.2018.0618
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