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G.P.4.01 Mutational spectrum of the DYSF gene based on a large cohort of dysferlin deficient patients

✍ Scribed by M. Krahn; R. Bernard; K. Nguyen; V. Labelle; G. Bassez; D. Figarella-Branger; J. Pouget; E. Di Salvo; E. Hammouda; C. Béroud; B. Eymard; J.A. Urtizberea; F. Leturcq; N. Lévy

Book ID
116792943
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
51 KB
Volume
17
Category
Article
ISSN
0960-8966

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Analysis of the DYSF mutational spectrum
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✍ Martin Krahn; Christophe Béroud; Véronique Labelle; Karine Nguyen; Rafaëlle Bern 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB 👁 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