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.

Mercuri, E. M., Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G., Ataluren treatment of patients with nonsense mutation dystrophinopathy, <<MUSCLE & NERVE>>, N/A; 50 (4): 477-487. [doi:10.1002/mus.24332] [http://hdl.handle.net/10807/65133]

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Mercuri, Eugenio Maria;
2014

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.
Inglese
Mercuri, E. M., Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G., Ataluren treatment of patients with nonsense mutation dystrophinopathy, <<MUSCLE & NERVE>>, N/A; 50 (4): 477-487. [doi:10.1002/mus.24332] [http://hdl.handle.net/10807/65133]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/65133
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