Article
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Human mutation - 1 Feb 2011
Scharner Juergen, Brown Charlotte A, Bower Matthew, Iannaccone Susan T, Khatri Ismail A, Escolar Diana, Gordon Erynn, Felice Kevin, Crowe Carol A, Grosmann Carla, Meriggioli Matthew N, Asamoah Alexander, Gordon Ora, Gnocchi Viola F, Ellis Juliet A, Mendell Jerry R, Zammit Peter S
Abstract excerpt
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada, which is the first report of the distribution of LMNA...
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