Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Familial dilated cardiomyopathy (DCM), clinically characterized by enlargement and dysfunction of one or both ventricles of the heart, can be caused by variants in sarcomeric genes including TNNC1 (encoding cardiac troponin C, cTnC). Here, we report the case of two siblings with severe, early onset...

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Detalles Bibliográficos
Autores principales: Landim-Vieira, Maicon, Johnston, Jamie R., Ji, Weizhen, Mis, Emily K., Tijerino, Joshua, Spencer-Manzon, Michele, Jeffries, Lauren, Hall, E. Kevin, Panisello-Manterola, David, Khokha, Mustafa K., Deniz, Engin, Chase, P. Bryant, Lakhani, Saquib A., Pinto, Jose Renato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990120/
https://www.ncbi.nlm.nih.gov/pubmed/32038292
http://dx.doi.org/10.3389/fphys.2019.01612

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990120/
https://www.ncbi.nlm.nih.gov/pubmed/32038292
http://dx.doi.org/10.3389/fphys.2019.01612

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