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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Detalhes bibliográficos
Publicado no:Front Physiol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Physiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990120/
https://ncbi.nlm.nih.gov/pubmed/32038292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2019.01612
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