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Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or wit...
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| 出版年: | Mol Ther Nucleic Acids |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Gene & Cell Therapy
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5992437/ https://ncbi.nlm.nih.gov/pubmed/29858056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2018.02.008 |
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