Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

S. Finkel, Richard; M. Flanigan, Kevin; Wong, Brenda; G. Bönnemann, Carsten; B. Sampson, Jacinda; Lee Sweeney, H.; Reha, A.; Northcutt, Valerie; Elfring, Gary; Barth, Jay; W. Peltz, Stuart

doi:10.1371/journal.pone.0081302

Public

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Published in PLoS ONE • Dec 11, 2013

Authors:

Richard S. Finkel

Kevin M. Flanigan

Brenda Wong

Abstract

BACKGROUND: Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ribosomal readthrough of premature stop ...

Subject

Duchenne muscular dystrophy

Nonsense mutation

Dystrophin

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