Fig. 2: The genomic subtypes of facioscapulohumeral muscular dystrophy (FSHD).
From: DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum
While FSHD1 involves contraction of the D4Z4 array to 1–10 repeat units, mutations of D4Z4 chromatin modifier genes are implicated in FSHD2. Both require the 4qA allele and lead to aberrant expression of DUX4 in skeletal muscle due to hypomethlyation of the DUX4 open reading frame (ORF) from the final repeat unit. Created in BioRender. Ryan, S. (2025) https://BioRender.com/ylvekuu.
