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P1.18 Dysferlin peptides elicit functional recovery in dysferlin deficient muscular dystrophy

✍ Scribed by V. Schoewel; A. Marg; R. Siegert; A. Schulze; U. Zacharias; I. Morano; S. Spuler


Book ID
116794463
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
39 KB
Volume
20
Category
Article
ISSN
0960-8966

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Mutation finding in patients with dysfer
✍ Rachele Cagliani; Francesca Magri; Antonio Toscano; Luciano Merlini; Francesco F πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 308 KB

Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 and A2 at the sarcolemma. We performed genotype/