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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Bibliographic Details
Main Author: Santos, Rosário (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2011
Subjects:
Alternative splicing
Clinical heterogeneity
Dysferlin
Exon skipping
Founder effect
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/173
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/173

Internet

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

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