Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a primary autosomal‐dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, a more severe HCM phenotype is generally seen. Here, we re...

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Detalles Bibliográficos
Autores principales: Kissopoulou, Antheia, Trinks, Cecilia, Green, Anna, Karlsson, Jan‐Erik, Jonasson, Jon, Gunnarsson, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073032/
https://www.ncbi.nlm.nih.gov/pubmed/29663722
http://dx.doi.org/10.1002/ehf2.12288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073032/
https://www.ncbi.nlm.nih.gov/pubmed/29663722
http://dx.doi.org/10.1002/ehf2.12288

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