Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?

Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of chil...

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Detalles Bibliográficos
Autores principales: Pasca, Ludovica, Gardani, Alice, Paoletti, Matteo, Velardo, Daniele, Berardinelli, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628801/
https://www.ncbi.nlm.nih.gov/pubmed/36349184
http://dx.doi.org/10.36185/2532-1900-078

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