Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up

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Duchenne’s muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by deletions (75%), duplications (15-20%) and point mutations (5-10%) in the dystrophin gene. Among the latter, stop-codon point mutations are rare. Female carriers of dystrophin gene mutations are usually asymptomatic...

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Detalles Bibliográficos
Autores principales: Dori, Amir, Guglieri, Michela, Scutifero, Marianna, Passamano, Luigia, Trabacca, Antonio, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744011/
https://www.ncbi.nlm.nih.gov/pubmed/35047755
http://dx.doi.org/10.36185/2532-1900-058

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