Abstract
Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.
| Lingua originale | English |
|---|---|
| pagine (da-a) | 477-487 |
| Numero di pagine | 11 |
| Rivista | MUSCLE & NERVE |
| Volume | 50 |
| DOI | |
| Stato di pubblicazione | Pubblicato - 2014 |
Keywords
- Adolescent
- Child
- Child, Preschool
- Codon, Nonsense
- Dose-Response Relationship, Drug
- Double-Blind Method
- Duchenne muscular dystrophy
- Dystrophin
- Humans
- International Cooperation
- Male
- Muscular Dystrophy, Duchenne
- Outcome Assessment (Health Care)
- Oxadiazoles
- Prospective Studies
- Time Factors
- Walking
- genetic
- nonsense mutation
- orphan
- pediatric