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Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation
Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) most commonly through loss of protein expression. In a small subpopulation of patients, missense mutations can cause DMD, Becker muscular dystrophy, or X-linked cardiomyopathy. Nearly one-half of disease-causing missense mutati...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
2010
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2906886/ https://ncbi.nlm.nih.gov/pubmed/20457930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1001517107 |
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