Article
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Human mutation - 1 Aug 2005
Nguyen Karine, Bassez Guillaume, Bernard Rafaëlle, Krahn Martin, Labelle Véronique, Figarella-Branger Dominique, Pouget Jean, Hammouda El Hadi, Béroud Christophe, Urtizberea Andoni, Eymard Bruno, Leturcq France, Lévy Nicolas
Abstract excerpt
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF. DYSF, located on chromosome 2p13, contains 55 coding exons and spans 150 kb of genomic DNA. We performed a genomic...
Topics
Join the communities discussing this publication.