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Article

Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

Nature reviews. Neurology - 1 Jul 2023

Bello Luca, Hoffman Eric P, Pegoraro Elena

Abstract excerpt

Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect (dystrophin deficiency). Factors contributing to this clinical variability include allelic heterogeneity (specific DMD mutations), genetic modifiers (trans-acting genetic polymorphisms) and variations in clinical care. Recently, a series of genetic modifiers have...

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Identifiers

PMID: 37308617
DOI: 10.1038/s41582-023-00823-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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