In a previous study, Yanovsky-Dagan and collaborators identified a new differentially methylated region in DM1-affected human embryonic stem cell lines, at the beginning of CpGi 374, 900 bp upstream of the CTG expansion, which corresponded to a SIX5 regulatory element within the DMPK coding sequence [30]. Here, DMPK is linked to myotonic dystrophy type 1.