Article

Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design

2023-02-20

Abstract excerpt

<h4>ABSTRACT</h4> Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and clinical trials. Several studies support the use of MRI characteristics and the expression of DUX4-regulated genes in muscle biopsies as biomarkers of FSHD disease activity and progression, but reproducibility across studies needs fur...

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Literature Corpus work: 7d110eda-c468-58e3-a3aa-2057269e3fcb
DOI: 10.1101/2023.02.20.529303

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