ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2021
Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.Molecular biology reports · 2026Article
- The BALB/c.mdx62 mouse exhibits a dystrophic muscle pathology and is a model of Duchenne muscular dystrophy.Disease models & mechanisms · 2024Article
- Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Article
- Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.Biomolecules · 2023Review
- The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.Communications biology · 2022Review
- A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of theSAGE open medical case reports · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 available, especially in pediatric age. We report the case of a 2-year- ambulant child affected by DMD caused by the stop-codon mutation c.10801C > T, p.Gln3601X in exon 76, who was early treated with Ataluren at a dosage of 40 mg/kg/die, and presented a rapid improvement in both muscle strength and cognitive and social skills.
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