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A dog model for centronuclear myopathy carrying the most common DNM2 mutation
Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning. Following the clinical report of a Border Collie male with...
Autores principales: | Böhm, Johann, Barthélémy, Inès, Landwerlin, Charlène, Blanchard-Gutton, Nicolas, Relaix, Frédéric, Blot, Stéphane, Laporte, Jocelyn, Tiret, Laurent |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016898/ https://www.ncbi.nlm.nih.gov/pubmed/35244154 http://dx.doi.org/10.1242/dmm.049219 |
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