Article
Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.
Neuromuscular disorders : NMD - 1 May 2011
Vernengo Luis, Oliveira Jorge, Krahn Martin, Vieira Emilia, Santos Rosário, Carrasco Luisa, Negrão Luís, Panuncio Ana, Leturcq France, Labelle Veronique, Bronze-da-Rocha Elsa, Mesa Rosario, Pizzarossa Carlos, Lévy Nicolas, Rodriguez Maria-Mirta
Abstract excerpt
Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from isolated hyperCKemia to severe functional disability. Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses slowly in Miyoshi myopathy whereas LGMD2B involves...
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