A congenital muscular dystrophy associated with a mutation in the collagen VI gene has been identified in a family of Labrador Retriever dogs. At 4 months of age, clinical signs including angular limb deformities and carpal and tarsal contractures were present. Serum creatine kinase activity was persistently elevated. Histopathology of muscle biopsies showed a dystrophic phenotype and immunohistochemical stainings of fibroblasts and muscle showed an absence of staining for collagen VI.
Research carried out at the University of Minnesota, the National Institutes of Health, and the University of California San Diego – Comparative Neuromuscular Laboratory identified a pathogenic mutation in the collagen VI gene with an autosomal recessive manner of inheritance.
We are now offering a genetic test which allows owners to determine their dog’s status for this mutation in order to diagnose affected dogs and to guide future breeding decisions.
Scientific References
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
Bolduc V, Minor KM, et al. (2020)
Neuromuscular Disorders, doi: 10.1016/j.nmd.2020.03.005