Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported...

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Detalles Bibliográficos
Autores principales: Beckers, Pablo, Caberg, Jean-Hubert, Dideberg, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., Bours, Vincent, Servais, Laurent, Boemer, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862591/
https://www.ncbi.nlm.nih.gov/pubmed/33542429
http://dx.doi.org/10.1038/s41598-021-82725-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862591/
https://www.ncbi.nlm.nih.gov/pubmed/33542429
http://dx.doi.org/10.1038/s41598-021-82725-z

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