Paraspinal amyotrophy in DNM-2-related centronuclear myopathy

Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by the morphological feature of centrally located nuclei in a large number of muscle fibers. CNM is related to several causative genes: dynamin 2 (DNM2), myotubularin (MTM1), amphiphysin 2 (BIN1), and ryanodine receptor 1 (RYR1) [1]. DNM2-related CNM (DNM2-CNM) is an autosomal-dominant inherited disease that accounts for about 50% of CNM cases [1]. Although DNM2-CNM has shown a variety of clinical manifestations, from severe neonatal onset to mild adult onset, most patients present with slowly progressive muscle weakness in the distal or sometimes proximal limbs, ptosis, ophthalmoplegia, and facial weakness [2 –4].

Source: Journal of the Neurological Sciences - October 15, 2019 Category: Neurology Authors: Kensuke Kakiuchi, Kiichi Unoda, Hideto Nakajima, Ichizo Nishino, Shigeki Arawaka Tags: Letters to the Editor Source Type: research