title: Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.
authors.affiliation: Servicio de Pediatría, Hospital Santa Bárbara, Soria, España. Electronic address: sortiz@saludcastillayleon.es.
authors.forename: S
authors.initials: S
authors.lastname: Ortiz Madinaveitia
authors.affiliation: Servicio de Medicina Interna, Hospital Santa Bárbara, Soria, España.
authors.forename: M
authors.initials: M
authors.lastname: Del Valle Sanchez
authors.affiliation: Servicio de Neurología, Hospital Santa Bárbara, Soria, España.
authors.forename: D
authors.initials: D
authors.lastname: Sagarra Mur
mesh_terms: D000328:Adult; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A