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

1 Jan 2014

Abstract excerpt

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...

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Identifiers

PMID: 27858662
DOI: 10.3233/jnd-140002

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Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 SkippingPMID 27858662Read ↗

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Semantic proximity Read ↗

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.Semantic proximity Read ↗

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Current Outline of Exon Skipping Trials in Duchenne Muscular DystrophySemantic proximity Read ↗

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.Semantic proximity Read ↗

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review.Semantic proximity Read ↗

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.Semantic proximity Read ↗

The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients.Semantic proximity Read ↗

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Early Gross Motor Milestones in Duchenne Muscular Dystrophy.Semantic proximity Read ↗

The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European ExperienceSemantic proximity Read ↗

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe PhenotypeSemantic proximity Read ↗

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