Mutations in DNM2 lead to a wide clinical spectrum including Centronuclear myopathy 1 (CMN1; OMIM: 160150), Lethal Congenital Contracture Syndrome 5 (LCCS5; OMIM: 615368); and Charcot-Marie-Tooth Disease, Dominant Intermediate B; (CMTDIB, OMIM: 606482). This evidence concerns the gene DNM2 and fetal akinesia-cerebral and retinal hemorrhage syndrome.