Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
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ABSTRACT:
SUBMITTER: Shelton GD
PROVIDER: S-EPMC10040250 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Publications
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.
Shelton G Diane GD Minor Katie M KM Vieira Natassia M NM Kunkel Louis M LM Friedenberg Steven G SG Cullen Jonah N JN Guo Ling T LT Zatz Mayana M Mickelson James R JR
Neuromuscular disorders : NMD 20220806 10
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 a ...[more]
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