In a previous report we described a family with a peculiar phenotype of hypertrophic cardiomyopathy associated with congenital deaf-mutism in which we identified an Arg273+1X causative mutation in the myosin binding protein C gene (MYBPC3). Here we provide a detailed clinical and genetic analysis of the family.
Keywords: Csanády cardiomyopathy deaf-mutism syndrome, myosin binding C-protein, genealogic study.