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Transgenic mouse models for investigating human <i>DUX4</i> expression during development and its roles in FSHD pathophysiology

2025-08-28

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy caused by aberrant expression of the DUX4 retrogene, and it affects skeletal muscles primarily in the face, shoulder, and limbs. In healthy individuals, DUX4 is expressed in early development and is subsequently silenced in most somatic tissues. The spatiotemporal pattern of DUX4 mis-expression beyond the cleavage stage in FSHD is po...

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Literature Corpus work
0bdb11e0-10ab-5d6f-bbc7-1f0bfbc0b41e
DOI
10.1101/2025.08.22.671867
Open publication

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