Article
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
Human mutation - 1 Sept 2005
Cagliani Rachele, Magri Francesca, Toscano Antonio, Merlini Luciano, Fortunato Francesco, Lamperti Costanza, Rodolico Carmelo, Prelle Alessandro, Sironi Manuela, Aguennouz Mohammed, Ciscato Patrizia, Uncini Antonino, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
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/phenotype correlations in a large cohort of dysferlinopathic patients and explored the possible role of annexins as...
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