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.
· Circulation Genomic and Prec... · 0 citations