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Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype
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 dyst...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040250/ https://www.ncbi.nlm.nih.gov/pubmed/36041985 http://dx.doi.org/10.1016/j.nmd.2022.08.001 |
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