Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically

Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be distinguished in infancy or early childhood. Accurate...

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Detalles Bibliográficos
Autores principales: Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252317/
https://www.ncbi.nlm.nih.gov/pubmed/37298193
http://dx.doi.org/10.3390/ijms24119241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252317/
https://www.ncbi.nlm.nih.gov/pubmed/37298193
http://dx.doi.org/10.3390/ijms24119241

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