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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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi R R, Hegde, Madhuri, Brown, Robert H
Natura: Artigo
Lingua:Inglês
Pubblicazione: BlackWell Publishing Ltd 2014
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Research Articles
Accesso online: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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