Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients have at least one nonsense allele, which may be...

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Detalles Bibliográficos
Autores principales: Seo, Kyowon, Kim, Eun Kyoung, Choi, Jaeil, Kim, Dae-Seong, Shin, Jin-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8181533/
https://www.ncbi.nlm.nih.gov/pubmed/34141825
http://dx.doi.org/10.1016/j.omtm.2021.04.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8181533/
https://www.ncbi.nlm.nih.gov/pubmed/34141825
http://dx.doi.org/10.1016/j.omtm.2021.04.015

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