Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 201...

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Detalles Bibliográficos
Autores principales: Bitetti, Ilaria, Mautone, Cinzia, Bertella, Marianna, Manna, Maria Rosaria, Varone, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744012/
https://www.ncbi.nlm.nih.gov/pubmed/35047759
http://dx.doi.org/10.36185/2532-1900-062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744012/
https://www.ncbi.nlm.nih.gov/pubmed/35047759
http://dx.doi.org/10.36185/2532-1900-062

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