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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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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spelling	oai:doaj.org-article:818c34e56abe46399fd41cf88d337f972021-12-02T14:40:45ZEvidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy10.1038/ncomms141432041-1723https://doaj.org/article/818c34e56abe46399fd41cf88d337f972017-01-01T00:00:00Zhttps://doi.org/10.1038/ncomms14143https://doaj.org/toc/2041-1723Duchenne 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.Marshall W. HogarthPeter J. HouwelingKristen C. ThomasHeather Gordish-DressmanLuca BelloCooperative International Neuromuscular Research Group (CINRG)Elena PegoraroEric P. HoffmanStewart I. HeadKathryn N. NorthNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
description	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.
format	article
author	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
author_facet	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
author_sort	Marshall W. Hogarth
title	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
title_short	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
title_full	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
title_fullStr	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
title_full_unstemmed	Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
title_sort	evidence for actn3 as a genetic modifier of duchenne muscular dystrophy
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/818c34e56abe46399fd41cf88d337f97
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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

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