Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping | Zendy

J.C. van den Bergen | Zendy; H.B. Ginjaar | Zendy; Erik H. Niks | Zendy; Annemieke AartsmaRus | Zendy; Jan J.G.M. Verschuuren | Zendy

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Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping

Author(s) -

J.C. van den Bergen,

H.B. Ginjaar,

Erik H. Niks,

Annemieke AartsmaRus,

Jan J.G.M. Verschuuren

Publication year - 2014

Publication title -

journal of neuromuscular diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.366

H-Index - 23

eISSN - 2214-3602

pISSN - 2214-3599

DOI - 10.3233/jnd-140002

Subject(s) - exon , duchenne muscular dystrophy , exon skipping , dystrophin , medicine , mutation , genetics , biology , gene , alternative splicing

Duchenne muscular dystrophy has a severe disease course, though variability exists. Case reports suggest a milder disease course of patients amenable to exon 44 skipping. In this study, we analyzed this and show that age at wheelchair dependence in patients with a dystrophin deletion requiring exon 44 skipping is postponed compared to patients with a deletion skippable by exon 45, 51 and 53 (10.8 versus 9.8 years; P 0.020). This may be explained by more frequent spontaneous exon 44 skipping in patients with a deletion flanking exon 44. This finding has important implications for the development of future Duchenne trials.

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