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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Front Physiol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2020
Soggetti:
Physiology
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi