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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Publicat a:Front Physiol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Physiology
Accés en línia: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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