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

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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Bibliographic Details
Main Authors: Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Emily K. Mis, Joshua Tijerino, Michele Spencer-Manzon, Lauren Jeffries, E. Kevin Hall, David Panisello-Manterola, Mustafa K. Khokha, Engin Deniz, P. Bryant Chase, Saquib A. Lakhani, Jose Renato Pinto
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Physiology
Subjects:
genetic analysis
cardiac troponin C
missense variant
dilated cardiomyopathy
TNNC1
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.01612/full

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