title: Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
abstract: Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.
authors.affiliation: Dr Agnieszka Madej-Pilarczyk, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego St., 02-106 Warsaw, Poland, phone: +48 22 608 66 01, fax: +48 22 608 65 31, e-mail: agamadpil@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: A
authors.initials: A
authors.lastname: Kochański
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease; D006801:Humans; D032342:Muscle Cells / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins