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.

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Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/818c34e56abe46399fd41cf88d337f97
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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

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