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 o...
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| Veröffentlicht in: | International journal of molecular and cellular medicine 2016, Vol.5 (3), p.196-198 |
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| creator | Ahmadifard, Azadeh Jamshidi, Javad Tafakhori, Abbas Mollazadeh, Reza Falsafi, Zeinab Darvish, Hossein |
| description | 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. |
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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.</description><identifier>ISSN: 2251-9637</identifier><identifier>EISSN: 2251-9645</identifier><identifier>PMID: 27942506</identifier><language>eng</language><publisher>Iran: Babol University of Medical Sciences</publisher><subject>Letter to Editor</subject><ispartof>International journal of molecular and cellular medicine, 2016, Vol.5 (3), p.196-198</ispartof><rights>2016. 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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.</abstract><cop>Iran</cop><pub>Babol University of Medical Sciences</pub><pmid>27942506</pmid><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Letter to Editor |
| title | Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals |
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