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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 resul...
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| Publicado no: | Nat Commun |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5290331/ https://ncbi.nlm.nih.gov/pubmed/28139640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14143 |
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