Article
[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2006
Rudenskaia G E, Tverskaia S M, Chukhrova A L, Zakliaz'minskaia E V, Kuropatkina Iu V, Dadali E L, Perminov V S, Poliakov A V
Abstract excerpt
A search for emerin and lamin A/C (LMNA) mutations was performed in a group of 63 unrelated patients with probable Emery-Dreifuss muscular dystrophy (EDMD) and other MD's with concomitant dilated cardiomyopathy (DCMP). Four different emerin mutations and 7 LMNA mutations were found in unrelated patients. One emerin mutation and 2 LMNA mutations, one of the latter being found twice, have been registered earlier;...
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