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Author

P. B. Chase

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Open access Sep 2026

Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice

Background: Pathologic variants in TNNC1 are associated with the development of hypertrophic cardiomyopathy (HCM). Unlike other sarcomeric genes, TNNC1 variants tend to cause early onset disease, and the most common variant identified in the gene, TNNC1-A8V, may also lead to severe diastolic dysfunction and restrictive...

Paula F. Nieto Morales, Enya R. Dewars, Amanda M. Mascarenhas et al. · 0 citations
Open access Aug 2026

Hypertrophic cardiomyopathy-linked Tnnc1 variants are associated with distinct myopathic changes in slow skeletal muscle of mice

Inherited hypertrophic cardiomyopathy (HCM) is considered a disease of the cardiac sarcomere and caused by pathogenic variants present in genes that encode sarcomeric proteins. The human TNNC1 gene is a designated HCM-susceptibility gene encoding the troponin C (TnC) protein, which is expressed in both cardiac and type...

Sonu Patel, Gabriel Leite da Silva Santos, Jaelynn Florence et al. · 0 citations

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