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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pacini Editore Srl
2021
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| Materias: | |
| 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 |