Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a key player in sarcolemmal homeostasis. Previous investigations have suggested that exon skipping ma...

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Detalles Bibliográficos
Autores principales: Barthélémy, Florian, Blouin, Cédric, Wein, Nicolas, Mouly, Vincent, Courrier, Sébastien, Dionnet, Eugénie, Kergourlay, Virginie, Mathieu, Yves, Garcia, Luis, Butler-Browne, Gillian, Lamaze, Christophe, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240545/
https://www.ncbi.nlm.nih.gov/pubmed/27858744
http://dx.doi.org/10.3233/JND-150109

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