ArticleCanine genetics and epidemiology2015
Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog.
Article in Canine genetics and epidemiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 12 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
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants.Genes · 2023Article
- CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies.WIREs mechanisms of disease · 2023Review
- Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene.The Journal of veterinary medical science · 2022Article
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.Skeletal muscle · 2021Article
- X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.Skeletal muscle · 2020Article
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
- Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs.PloS one · 2018Article
- The golden retriever model of Duchenne muscular dystrophy.Skeletal muscle · 2017Review
- Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry.
findingsExon resequencing of the canine Duchenne Muscular Dystrophy (DMD) gene was undertaken to screen for potential disease causing mutations. The sequence data generated from all coding DMD exons revealed a 1 bp deletion in exon 22, causing a frameshift and premature termination of the coding sequence. Gene expression analysis indicated reduced levels of dystrophin transcript in the DD-MD case and western blot confirmed the absence of full length protein.
conclusionsThe finding represents a novel mutation causing DD-MD in the dog.
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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 OpenQuestion graph.