A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

“…These findings are different from those in the aforementioned studies. Therefore, we speculate that the novel mutation in our patient had a more severe effect on cardiac than skeletal muscle [ 17 – 19 ].…”