Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy.
Menache
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Departments of Neurology and Orthopedic Surgery, Children's Hospital and Harvard Medical School, Boston, MA 02115; Department of Pediatrics, Carolinas Medical Center, Charlotte, NC 28232-2861, USA.
Brown
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Donnelly
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Shapiro
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Darras
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D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D012694:Serine; D013946:Thymopoietins / Q000235:genetics*; D014481:United States; D044465:White People / Q000235:genetics
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D012694:Serine