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Coexistence of a Heterozygous Caveolin-3 Deletion and a Novel Dystrophin Gene Mutation in a Duchenne Muscular Dystrophy Patient
Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix,...
Autores principales: | Khan, Muhammad W, Raza, Syed Ali, Raza, Madiha, Rogers, Eli, Riel-Romero, Rosario Maria S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995560/ https://www.ncbi.nlm.nih.gov/pubmed/36909082 http://dx.doi.org/10.7759/cureus.34704 |
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