ArticleNeuromuscular disorders : NMD2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Article in Neuromuscular disorders : NMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04240314 (Phase I/IIa Systemic Gene Delivery Clinical Trial of scAAV9.U7.ACCA for Exon 2 Duplication-Associated Duchenne Muscular Dystrophy), which is not on this map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phase I/IIa Systemic Gene Delivery Clinical Trial of scAAV9.U7.ACCA for Exon 2 Duplication-Associated Duchenne Muscular Dystrophy
Who cites it
23 citing papers in PubMed.
- Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.Clinical neuroradiology · 2026Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.Molecular therapy. Methods & clinical development · 2023Article
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.European journal of human genetics : EJHG · 2023Article
- Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2022Article
- Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.Molecular therapy. Methods & clinical development · 2022Article
- Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet.Muscle & nerve · 2022Article
- Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.Neurology · 2022Observational
- Targeting IRES-dependent translation as a novel approach for treating Duchenne muscular dystrophy.RNA biology · 2021Review
- Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to InduceHuman gene therapy · 2021Article
- Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediatedMolecular therapy. Methods & clinical development · 2021Article
- Becker muscular dystrophy caused by exon 2-truncating mutation ofHuman genome variation · 2019Article
- Clinical Utility Gene Card for: Becker muscular dystrophy.European journal of human genetics : EJHG · 2018Article
- Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Human genomics · 2018Article
- The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human genetics · 2017Article
- Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy.Disease models & mechanisms · 2015Review
- Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.Skeletal muscle · 2015Article
- Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nature medicine · 2014Article
- Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings.Clinical investigation · 2011Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
A recurrent exon 1 nonsense mutation in the DMD gene, p.Trp3X (c.9G>A), was first ascertained in a proband with no symptoms until age 20 and who walked until the age of 62. Six other unrelated kindreds carrying a p.Trp3X mutation were subsequently ascertained, five from North America and one from Italy. In six of the seven kindreds, the proband presented in childhood incidental to elevated creatine kinase levels detected in the context of other illnesses, or in the setting of cramps with or without rhabdomyolysis. Genetic analysis by high density SNP genotyping demonstrates that the six North American families share a 3.7 Mbp haplotype surrounding the p.Trp3X allele, signifying that this is a founder mutation in these individuals. The size of the founder haplotype and the structure of shared genome-wide segments suggests that the minimal age of this mutation is >6 generations. The discovery of the first DMD founder mutation, associated with a mild Becker phenotype, suggests that the prevalence of hypomorphic dystrophin mutations should be re-examined with the use of improved genomic analysis.
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Registered trials
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