Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals

EMD gene is located on Xq28 and encodes emerin, which is a serine- rich nuclear membrane protein and a member of the nuclear lamina- associated protein family (5). A nonsense mutation was detected in exon 4 of EMD gene in hemizygous form in affected men (c.315T>A, p.Y105*) (Figure 1C). Conflict of interest The authors declared no conflict of interest. 1 Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 2 Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran. 3 Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. 4 Electrophysiology and Pacemarker, Cardiology Department, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.