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Article

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Nature communications - 31 Jan 2017

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

Abstract excerpt

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 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant patients with DMD;...

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Source

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Identifiers

PMID: 28139640
DOI: 10.1038/ncomms14143
PMCID: PMC5290331

Genes

ACTN3
DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.PMID 28139640Read ↗

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