Article
Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2021
Bitetti Ilaria, Mautone Cinzia, Bertella Marianna, Manna Maria Rosaria, Varone Antonio
Abstract excerpt
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 2014, and several clinical trials documented its efficacy and safety. However, few real-life experience data is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.