ArticleNeuromuscular disorders : NMD2022
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
Article in Neuromuscular disorders : NMD, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Dystrophin-Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene.Veterinary medicine and science · 2026Article
- Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion EncompassingGenes · 2025Article
- A novel partial mRNA-derived duplication of theJournal of genetics · 2025Article
- Whole Animal Genome Sequencing: user-friendly, rapid, containerized pipelines for processing, variant discovery, and annotation of short-read whole genome sequencing data.G3 (Bethesda, Md.) · 2023Article
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants.Genes · 2023Article
- Dystrophin (International journal of molecular sciences · 2023Article
- A Nonsense Variant in theAnimals : an open access journal from MDPI · 2022Article
- Familial Narcolepsy in Dogo Argentino Dogs Is Caused by a Tandem Duplication Mutation in HCRTR2.Journal of veterinary internal medicineArticle
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
A form of dystrophinopathy with mild or subclinical neuromuscular signs has been previously reported in a family of Labrador retrievers. Markedly and persistently elevated creatine kinase activity was first noted at 6 months of age. Skeletal muscle biopsies revealed a dystrophic phenotype, with dystrophin non-detectable on western blotting and immunohistochemical staining, and with increased utrophin expression. In this report we demonstrate with western blotting that α-dystroglycan is present at essentially normal levels. Whole genome sequencing has also now revealed an approximately 400kb tandem genomic DNA duplication including exons 2-7 of the DMD gene that was inserted into intron 7 of the wild type gene. Skeletal muscle cDNA from 2 cases contained DMD transcripts as expected from an in-frame properly-spliced exon 2-7 tandem insertion. A similar 5' duplication involving DMD exons 2-7 has been reported in a human family with dilated cardiomyopathy but without skeletal myopathy. This is the 3
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.