Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients

Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked neuromuscular disease due to pathogenic sequence variations in the dystrophin (DMD) gene, one of the largest human genes. More than 70% of DMD gene defects result from genomic rearrangements principally leading to large deletions, while the...

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Detalles Bibliográficos
Autores principales: De Palma, Fatima Domenica Elisa, Nunziato, Marcella, D’Argenio, Valeria, Savarese, Maria, Esposito, Gabriella, Salvatore, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534830/
https://www.ncbi.nlm.nih.gov/pubmed/34679607
http://dx.doi.org/10.3390/diagnostics11101910

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534830/
https://www.ncbi.nlm.nih.gov/pubmed/34679607
http://dx.doi.org/10.3390/diagnostics11101910

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