Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)
Keywords: MIRS, muscular impairment rating scale; CTG, cytosine–thymine–guanine; DM1, myotonic dystrophy type 1; cDM1, congenital myotonic dystrophy type 1; DMPK, Dystrophia myotonica protein kinase gene; SIX5, SIX Homeobox 5 gene; CUG-BP1, CUG RNA-binding protein;