Clinical and genetic screening in hypertrophic cardiomyopathy associated with congenital deaf-mutism

Written by Tóth Tímea, Orosz Andrea, Csanády Miklós, Hőgye Márta, Forster Tamás, Sepp Róbert

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.


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