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

Article type: Research Article

Authors: van den Bergen, J.C. | Ginjaar, H.B. | Niks, E.H. | Aartsma-Rus, A. | Verschuuren, J.J.G.M.

Affiliations: Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands | Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands | Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Note: [] Correspondence to: J.C. van den Bergen, Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. Tel.: +31 71 5262197; Fax: +31 71 5248221; E-mail: [email protected]

Keywords: Duchenne muscular dystrophy, exon skipping, disease progression

DOI: 10.3233/JND-140002

Journal: Journal of Neuromuscular Diseases, vol. 1, no. 1, pp. 91-94, 2014

Published: 2014
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Abstract

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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