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P4.53 Effect of rituximab in two patients with dysferlin-deficient muscular dystrophy

โœ Scribed by A. Lerario; F. Cogiamanian; C. Marchesi; M. Belicchi; N. Bresolin; L. Porretti; Y. Torrente


Book ID
116794831
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
47 KB
Volume
21
Category
Article
ISSN
0960-8966

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Mutation finding in patients with dysfer
โœ Rachele Cagliani; Francesca Magri; Antonio Toscano; Luciano Merlini; Francesco F ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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/