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Article

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

12 Dec 2017

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to hypomethylation of D4Z4 repeats on chromosome 4q causing expression of the DUX4 transcription factor. However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust changes in DUX4 target gene expression are as an FSHD biomarker. PAX7 is a master regulator of myogenesis that rescues...

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PMID: 29255294
DOI: 10.1038/s41467-017-01200-4

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