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Article

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

18 Nov 2024

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is caused by sporadic misexpression of the transcription factor double homeobox 4 (DUX4) in skeletal muscles. So far, monolayer cultures and animal models have been used to study the disease mechanism of FSHD and for development of FSHD therapy, but these models do not fully recapitulate the disease and there is a lack of knowledge on how DUX4 misexpression leads to...

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PMID: 39556762
DOI: 10.1093/brain/awae379

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