A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

OBJECTIVE: Mutations in dysferlin (DYSF), a Ca(2+)-sensitive ferlin family protein important for membrane repair, vesicle trafficking, and T-tubule function, cause Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal myopathy. More than 330 pathogenic DYSF mutations have been identif...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi R R, Hegde, Madhuri, Brown, Robert H
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241797/
https://ncbi.nlm.nih.gov/pubmed/25493284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.96
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