The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.

CONCLUSIONS: The p.(Cys150Tyr) variant in CSRP3 causes late-onset and low risk form of hypertrophic cardiomyopathy in heterozygous carriers.
PMID: 33035702 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - October 6, 2020 Category: Genetics & Stem Cells Authors: Salazar-Mendiguchía J, Barriales-Villa R, Lopes LR, Ochoa JP, Rodríguez-Vilela A, Palomino-Doza J, Larrañaga-Moreira JM, Cicerchia M, Cárdenas-Reyes I, García-Giustiniani D, Brögger N, Fernández G, García S, L S, P V, Ortiz-Genga M, Elliott PM, Mo Tags: Eur J Med Genet Source Type: research