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Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

✍ Scribed by Gilles Millat; Patrice Bouvagnet; Philippe Chevalier; Laurent Sebbag; Arnaud Dulac; Claire Dauphin; Pierre-Simon Jouk; Marie-Ange Delrue; Jean-Benoit Thambo; Philippe Le Metayer; Marie-France Seronde; Laurence Faivre; Jean-Christophe Eicher; Robert Rousson


Book ID
116433421
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
193 KB
Volume
54
Category
Article
ISSN
1769-7212

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Analysis of the DYSF mutational spectrum
✍ Martin Krahn; Christophe BΓ©roud; VΓ©ronique Labelle; Karine Nguyen; RafaΓ«lle Bern πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 314 KB πŸ‘ 1 views

## 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 fr