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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Detalles Bibliográficos
Autores principales: Hogarth, Marshall W., Houweling, Peter J., Thomas, Kristen C., Gordish-Dressman, Heather, Bello, Luca, Pegoraro, Elena, Hoffman, Eric P., Head, Stewart I., North, Kathryn N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290331/
https://www.ncbi.nlm.nih.gov/pubmed/28139640
http://dx.doi.org/10.1038/ncomms14143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290331/
https://www.ncbi.nlm.nih.gov/pubmed/28139640
http://dx.doi.org/10.1038/ncomms14143

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