Article
[DNA-diagnosis of Emery-Dreifuss muscular dystrophy].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2003
Tverskaia S M, Rudenskaia G E, Chukhrova A L, Poliakov A V
Abstract excerpt
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...
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