Article
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Human mutation - 1 Feb 2009
Krahn Martin, Béroud Christophe, Labelle Véronique, Nguyen Karine, Bernard Rafaëlle, Bassez Guillaume, Figarella-Branger Dominique, Fernandez Carla, Bouvenot Julien, Richard Isabelle, Ollagnon-Roman Elisabeth, Bevilacqua Jorge A, Salvo Eric, Attarian Shahram, Chapon Françoise, Pellissier Jean-François, Pouget Jean, Hammouda El Hadi, Laforêt Pascal, Urtizberea Jon Andoni, Eymard Bruno, Leturcq France, Lévy Nicolas
Abstract excerpt
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Here, we analysed the mutational data from the largest cohort described to date, a cohort of 134 patients, included based on clinical suspicion of primary...
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