A Mutation in TNNC1-encoded Cardiac Troponin C, TNNC1-A31S, Predisposes to Hypertrophic Cardiomyopathy and Ventricular Fibrillation

Defined as clinically unexplained hypertrophy of the left ventricle, hypertrophic cardiomyopathy (HCM) is traditionally understood as a disease of the cardiac sarcomere. Mutations in TNNC1-encoded cardiac troponin C (cTnC) are a relatively rare cause of HCM. Here, we report clinical and functional c...

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Bibliographische Detailangaben
Hauptverfasser: Parvatiyar, Michelle S., Landstrom, Andrew P., Figueiredo-Freitas, Cicero, Potter, James D., Ackerman, Michael J., Pinto, Jose Renato
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2012
Schlagworte:
Molecular Bases of Disease
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3442518/
https://ncbi.nlm.nih.gov/pubmed/22815480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.377713
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