title: Emery-Dreifuss muscular dystrophy.
abstract: Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
authors.affiliation: Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Helbling-Leclerc
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.forename: Ketty
authors.initials: K
authors.lastname: Schwartz
mesh_terms: D005799:Genes, Dominant; D006801:Humans; D034882:Lamins; D008565:Membrane Proteins / Q000235:genetics; D008957:Models, Genetic; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome
chemical_list: D034882:Lamins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin