Ataluren treatment of patients with nonsense mutation dystrophinopathy

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double-blind, placebo-controlled study...

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Detalles Bibliográficos
Autores principales: Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Main Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241581/
https://www.ncbi.nlm.nih.gov/pubmed/25042182
http://dx.doi.org/10.1002/mus.24332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241581/
https://www.ncbi.nlm.nih.gov/pubmed/25042182
http://dx.doi.org/10.1002/mus.24332

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