Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients

Krahn, Martin; Béroud, Christophe; Labelle, Véronique; Nguyen, Karine; Bernard, Rafaëlle; Bassez, Guillaume; Figarella‐Branger, Dominique; Fernandez, Carla; Bouvenot, J.; Richard, Isabelle; Ollagnon‐Roman, Elisabeth; A. Bevilacqua, Jorge; Salvo, Eric; Attarian, Shahram; Chapon, Françoise; Pellissier, Jean‐François; Pouget, Jean; Hadi Hammouda, El; Laforêt, Pascal; Andoni Urtizberea, Jon; Eymard, B.; Leturcq, France; Lévy, Nicolas

doi:10.1002/humu.20910

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Analysis of theDYSFmutational spectrum in a large cohort of patients

Published in Human Mutation • Oct 13, 2008

Authors:

Martin Krahn

Christophe Béroud

Véronique Labelle

Abstract

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 t...

Subject

Dysferlin

Missense mutation

Genetics

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