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,...

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Detalles Bibliográficos
Autores principales: Khan, Muhammad W, Raza, Syed Ali, Raza, Madiha, Rogers, Eli, Riel-Romero, Rosario Maria S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Neurology
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

Internet

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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