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Article

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.

Skeletal muscle - 11 Apr 2020

Jones Takako I, Chew Guo-Liang, Barraza-Flores Pamela, Schreier Spencer, Ramirez Monique, Wuebbles Ryan D, Burkin Dean J, Bradley Robert K, Jones Peter L

Abstract excerpt

BACKGROUND: All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology. Typically, progressive skeletal muscle weakness becomes noticeable in the second or third decade of life, yet there are many individuals who are genetically FSHD...

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Identifiers

PMID: 32278354
DOI: 10.1186/s13395-020-00227-4
PMCID: PMC7149937

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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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