A family with DNM2-related centronuclear myopathy without ophthalmoplegia

Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by centrally located nuclei in most of its muscle fibers. DNM2 is most commonly found assuming autosomal dominant inheritance pattern. Clinically, DNM2-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia and contracture. Here we report a first Korean family diagnosed as DNM2-related CNM without ocular symptoms. A 48 year old Korean male...