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Novel Mutation in Spectrin-like Repeat 1 of Dystrophin Central Domain Causes Protein Misfolding and Mild Becker Muscular Dystrophy
Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Biochemistry and Molecular Biology
2012
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3365720/ https://ncbi.nlm.nih.gov/pubmed/22453924 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.284521 |
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