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Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies
Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration. Different mutations in the DMD gene, which encodes for dystrophin protein, are responsible for these disorders. The aim of our study was to inv...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8689184/ https://www.ncbi.nlm.nih.gov/pubmed/34950096 http://dx.doi.org/10.3389/fneur.2021.718396 |