Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Cardiac troponin I (TNNI3) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N terminus of the protein. In model organisms, it impairs PK...

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Detalles Bibliográficos
Autores principales: Fahed, Akl C., Nemer, Georges, Bitar, Fadi F., Arnaout, Samir, Abchee, Antoine B., Batrawi, Manal, Khalil, Athar, Abou Hassan, Ossama K., DePalma, Steven R., McDonough, Barbara, Arabi, Mariam T., Ware, James S., Seidman, Jonathan G., Seidman, Christine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676616/
https://www.ncbi.nlm.nih.gov/pubmed/32885985
http://dx.doi.org/10.1161/CIRCGEN.120.002991

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676616/
https://www.ncbi.nlm.nih.gov/pubmed/32885985
http://dx.doi.org/10.1161/CIRCGEN.120.002991

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