PAX2 and Miyoshi myopathy: Compared with healthy controls, individuals with MM exhibited three hypomethylated CpG sites and increased PAX2 mRNA levels, suggesting that aberrant PAX2 promoter methylation may contribute to Müllerian duct anomaly (MDA) development, while differential methylation in HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4, and H19 was not associated with changes in their gene expression or disease development [8].