External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. It has been reported that loss-of-function mutations in MYF5 cause this disease. MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and is a key regulator of early stages of myogenesis.
