Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51

The allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin—a sarcolemma-associated protein involved in membrane repair. Mutation screening in the dysferlin gene (DYSF) enabled the i...

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Detalhes bibliográficos
Autor principal: Santos, Rosário (author)
Outros Autores: Oliveira, Jorge (author), Vieira, Emília (author), Coelho, Teresa (author), Carneiro, António Leite (author), Evangelista, Teresinha (author), Dias, Cristina (author), Fortuna, Ana (author), Geraldo, Argemiro (author), Negrão, Luís (author), Guimarães, António (author), Bronze-da-Rocha, Elsa (author)
Formato: article
Idioma:eng
Publicado em: 2011
Assuntos:
Alternative splicing
Clinical heterogeneity
Dysferlin
Exon skipping
Founder effect
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/173
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/173

Texto Completo

http://hdl.handle.net/10400.18/173

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