title: Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.
abstract: The X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) was recently shown to be due to mutations in the STA gene on chromosome Xq28. We have demonstrated a simple test for the diagnosis of this condition, looking for altered expression of the protein, emerin, in leucocytes and skin with a monoclonal antibody. Full-length emerin is completely absent in affected boys from the EDMD families studied. The method has also enabled identification of a female carrier of the disease by reduced levels of the protein on the leucocyte Western blot and a mosaic pattern of expression by immunofluorescence microscopy of the skin biopsy.
authors.affiliation: MRIC Biochemistry Group, N.E. Wales Institute, Wrexham, UK.
authors.forename: S
authors.initials: S
authors.lastname: Manilal
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: N
authors.initials: N
authors.lastname: Man
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: G E
authors.initials: GE
authors.lastname: Morris
mesh_terms: D000293:Adolescent; D000911:Antibodies, Monoclonal; D005260:Female; D005455:Fluorescent Antibody Technique; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007159:Immunologic Tests; D007962:Leukocytes / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D009687:Nuclear Proteins; D010375:Pedigree; D012867:Skin / Q000378:metabolism*; D013946:Thymopoietins / Q000378:metabolism*; D014960:X Chromosome
chemical_list: D000911:Antibodies, Monoclonal; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin