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P2.58 Dissecting the interactions of proteins constituting the dysferlin complex

✍ Scribed by B. Flix; C. De la Torre; J. Castillo; C. Casal; I. Illa; E. Gallardo

Book ID
116795062
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
58 KB
Volume
21
Category
Article
ISSN
0960-8966

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Mutation finding in patients with dysfer
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✍ Rachele Cagliani; Francesca Magri; Antonio Toscano; Luciano Merlini; Francesco F 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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/