Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped hypertrophic cardiomyopathy cohorts have precluded detailed genotype-phenotype...

Descripción completa

Detalles Bibliográficos
Autores principales: Helms, Adam S., Thompson, Andrea D., Glazier, Amelia A., Hafeez, Neha, Kabani, Samat, Rodriguez, Juliani, Yob, Jaime M., Woolcock, Helen, Mazzarotto, Francesco, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
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/PMC7676622/
https://www.ncbi.nlm.nih.gov/pubmed/32841044
http://dx.doi.org/10.1161/CIRCGEN.120.002929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676622/
https://www.ncbi.nlm.nih.gov/pubmed/32841044
http://dx.doi.org/10.1161/CIRCGEN.120.002929

Ejemplares similares