ArticleSkeletal muscle2017
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.
Article in Skeletal muscle, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Exploring the genetic alterations of Gorham-Stout disease.Frontiers in endocrinology · 2025Review
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- Current Classification of Canine Muscular Dystrophies and Identification of New Variants.Genes · 2023Article
- Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease.BMC medical genomics · 2022Article
- Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Animals : an open access journal from MDPI · 2022Article
- A Comparative Assessment of the Diagnosis of Swallowing Impairment and Gastroesophageal Reflux in Canines and Humans.Frontiers in veterinary science · 2022Review
- CRISPR/Cas correction of muscular dystrophies.Experimental cell research · 2021Article
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.Skeletal muscle · 2021Article
- Random forest-integrated analysis in AD and LATE brain transcriptome-wide data to identify disease-specific gene expression.PloS one · 2021Article
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
- Dysphagia and esophageal dysfunction due to dystrophin deficient muscular dystrophy in a male Spanish water spaniel.The veterinary quarterly · 2018Article
- A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20.Skeletal muscle · 2018Article
- An exome sequencing based approach for genome-wide association studies in the dog.Scientific reports · 2017Article
- Sarcoglycanopathy with absent expression of all sarcoglycan proteins in a young cat with clinical features of feline hypertrophic muscular dystrophy.JFMS open reportsArticle
- Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy.Journal of veterinary internal medicineArticle
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundLimb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood.
methodsFollowing clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog.
resultsWithin sarcoglycan-δ (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog. Both mutations are predicted to cause an absence of SGCD protein, confirmed by immunohistochemistry. The mutations are private to each family.
conclusionsHere, we describe the first cases of canine LGMD characterized at the molecular level with the classification of LGMD2F.
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