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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...
Autores principales: | Seo, Kyowon, Kim, Eun Kyoung, Choi, Jaeil, Kim, Dae-Seong, Shin, Jin-Hong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Gene & Cell Therapy
2021
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Materias: | |
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 |
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