The MYOD1 locus is preferentially expressed in skeletal muscle and at higher levels in its related neoplasm, rhabdomyosarcoma. MYOD1 promoter methylation occurs in various malignancies including colorectal cancer.A recurring point mutation in MYOD1 is found in 1% of embryonal rhabdomyosarcomas (ERMS).MYOD1 activates MYF5 and MYOG, the transcription factor genes essential for myogenic differentiation, and the concerted upregulation of these myogenic regulatory factors enhanced MYH2 and DMD expressions.