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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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Bibliografiske detaljer
Main Authors: Henderson, Davin M., Lee, Ann, Ervasti, James M.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2010
Fag:
Online adgang: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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