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

Joel Salazar‐Mendiguchía, Roberto Barriales‐Villa, Luís R. Lopes, Juan Pablo Ochoa, Alejandro Rodríguez-Vilela, Julián Palomino-Doza, José M. Larrañaga‐Moreira, Marcos Cicerchia, Ivonne Cárdenas-Reyes, Diego García-Giustiniani, Noël Brögger, Germán Fernández, Soledad García, Lisi Santiago, Paula Vélez, Martín Ortiz-Genga, Perry Elliott, Lorenzo Monserrat

2020European Journal of Medical Genetics19 citationsDOIOpen Access PDF

Topics & Concepts

Hypertrophic cardiomyopathyProbandPenetranceMissense mutationInternal medicineMedicineCardiomyopathyPopulationCohortCardiologyGeneticsPhenotypeBiologyMutationHeart failureGeneEnvironmental healthCardiomyopathy and Myosin StudiesCardiac tumors and thrombiCardiac Fibrosis and Remodeling
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals | Litcius