Congenital Myopathy 6

Congenital Myopathy 6, also known as proximal myopathy and ophthalmoplegia, is related to congenital myopathy 6 with ophthalmoplegia and hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome. An important gene associated with Congenital Myopathy 6 is MYH2 (Myosin Heavy Chain 2), and among its related pathways/superpathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Matrix metalloproteinases.