Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family planning, especially at this time when mutation-specifi...

Descripción completa

Detalles Bibliográficos
Autores principales: Viggiano, Emanuela, Picillo, Esther, Passamano, Luigia, Onore, Maria Elena, Piluso, Giulio, Scutifero, Marianna, Torella, Annalaura, Nigro, Vincenzo, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859256/
https://www.ncbi.nlm.nih.gov/pubmed/36672955
http://dx.doi.org/10.3390/genes14010214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859256/
https://www.ncbi.nlm.nih.gov/pubmed/36672955
http://dx.doi.org/10.3390/genes14010214

Ejemplares similares