Ludovica Pasca Alice Gardani Matteo Paoletti Daniele Velardo Angela Berardinelli
10.36185/2532-1900-078
Acta Myol
2022 Sep 30;41(3):121-125.
duchenne muscular dystrophy ataluren nonsense mutation target therapy time function tests
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36349184/
Muscular Dystrophy, Duchenne / drug therapy Muscular Dystrophy, Duchenne / genetics Muscular Dystrophy, Duchenne / metabolism
Muscular Dystrophy, Duchenne / drug therapy Muscular Dystrophy, Duchenne / genetics Muscular Dystrophy, Duchenne / metabolism Case Reports Adolescent Child Codon, Nonsense Dystrophin / genetics Exons Humans Male Oxadiazoles / therapeutic use ataluren Dystrophin Oxadiazoles Codon, Nonsense
PMC9628801
36349184
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?
2022