title: [DNA-diagnosis of Emery-Dreifuss muscular dystrophy].
abstract: The experience of DNA-diagnosis of X-linked recessive Emery-Dreifuss muscular dystrophy for the first time made in Russia is presented. A search for mutations in emerin gene responsible for the disease has been conducted in 13 blood samples of male patients with clinical diagnosis of various muscular dystrophy. Mutations were found in 2 patients. In one of them clinical diagnosis of Emery-Dreifuss muscular dystrophy was confirmed. In the other, a novel mutation was described that allowed to change a clinical diagnosis of limb girdle muscular dystrophy. X-linked and clinically identical autosomal-dominant forms of Emery-Dreifuss muscular dystrophy are characterized by pronounced clinical polymorphism complicating clinical diagnosis. DNA-diagnosis principally extends possibilities for early diagnosis of this disorder that is extremely important for prevention of severe and frequently lethal heart diseases.
authors.forename: S M
authors.initials: SM
authors.lastname: Tverskaia
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: A L
authors.initials: AL
authors.lastname: Chukhrova
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013946:Thymopoietins / Q000097:blood / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin