An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy. He remained genetically unsolved after routine exonic detection...

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Detalles Bibliográficos
Autores principales: Sun, Chengyue, Xie, Zhiying, Cong, Lu, Xu, Yan, Liu, Zunjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930419/
https://www.ncbi.nlm.nih.gov/pubmed/36542547
http://dx.doi.org/10.1002/acn3.51716

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930419/
https://www.ncbi.nlm.nih.gov/pubmed/36542547
http://dx.doi.org/10.1002/acn3.51716

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