Article
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
Neuromuscular disorders : NMD - 1 Oct 2022
Shelton G Diane, Minor Katie M, Vieira Natassia M, Kunkel Louis M, Friedenberg Steven G, Cullen Jonah N, Guo Ling T, Zatz Mayana, Mickelson James R
Abstract excerpt
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....
Topics
- Animals
- Dogs
- Humans
- Muscular Dystrophy, Duchenne
- Dystrophin
- Exons
- Phenotype
- Muscle, Skeletal
- Introns