Congenital Myopathy 6 with Ophthalmoplegia (CMYP6)

Congenital Myopathy 6 with Ophthalmoplegia, also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, is related to hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome and congenital myopathy 6, and has symptoms including ophthalmoplegia and generalized muscle weakness. An important gene associated with Congenital Myopathy 6 with Ophthalmoplegia is MYH2 (Myosin Heavy Chain 2). Affiliated tissues include eye and whole blood, and related phenotypes are scapular winging and distal muscle weakness