PABPN1 gene therapy for oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an...

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Udgivet i:Nat Commun
Main Authors: Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. Polay, Mamchaoui, K., Blumen, S. C., St Guily, J. Lacau, Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5380963/
https://ncbi.nlm.nih.gov/pubmed/28361972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14848
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