P.106Mutation-specific therapy for X-linked myotubular myopathy

X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy due to mutations in MTM1 encoding a 3-phosphoinositides phosphatase myotubularin. XLMTM patients display severe generalized hypotonia at birth accompanied by respiratory insufficiency and pathologically show small-size fibers with peripheral halo, centrally located nuclei, disorganized perinuclear organelles in the muscle. Among 78 patients with pathologically diagnosed as XLMTM in our cohort, causative mutations were not identified in 20 cases by targeted re-sequencing panel for congenital myopathy, MTM1 Sanger sequencing nor Whole-exome sequencing.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Hayashi, S. Noguchi, T. Kumutpongpanich, A. Iida, M. Okubo, M. Matsuo, I. Nishino Source Type: research