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Article

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

10 Oct 2018

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in skeletal muscle. As targeted therapies are now possible in FSHD, a better understanding of the relationship between DUX4 activity, muscle pathology and muscle magnetic resonance imaging (MRI) changes is crucial both to...

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PMID: 30312408
DOI: 10.1093/hmg/ddy364

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