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.

Guardado en:
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:
Q
Acceso en línea:https://doaj.org/article/818c34e56abe46399fd41cf88d337f97
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Descripción
Sumario: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.