Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Duchenne muscular dystrophy is a disease caused by a single gene, characterized by progressive muscle weakness, but is variable between patients partly due to interactions of other genes. Here, the authors show that a commonACTN3polymorphism can modify the clinical phenotype.

Bibliographic Details
Main Authors: Marshall W. Hogarth, Peter J. Houweling, Kristen C. Thomas, Heather Gordish-Dressman, Luca Bello, Cooperative International Neuromuscular Research Group (CINRG), Elena Pegoraro, Eric P. Hoffman, Stewart I. Head, Kathryn N. North
Format: Article
Language:English
Published: Nature Publishing Group 2017-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms14143

Internet

https://doi.org/10.1038/ncomms14143

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