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

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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 ... ...