Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

We report a dystrophinopathy patient with an in-frame deletion of DMD exons 45–47, and therefore a genetic diagnosis of Becker muscular dystrophy, who presented with a more severe than expected phenotype. Analysis of the patient DMD mRNA revealed an 82 bp pseudoexon, derived from intron 44, that dis...

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Detalles Bibliográficos
Autores principales: Greer, Kane, Mizzi, Kayla, Rice, Emily, Kuster, Lukas, Barrero, Roberto A, Bellgard, Matthew I, Lynch, Bryan J, Foley, Aileen Reghan, O Rathallaigh, Eoin, Wilton, Steve D, Fletcher, Sue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521967/
https://www.ncbi.nlm.nih.gov/pubmed/26247048
http://dx.doi.org/10.1002/mgg3.144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521967/
https://www.ncbi.nlm.nih.gov/pubmed/26247048
http://dx.doi.org/10.1002/mgg3.144

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