TY - JOUR AU - Pierson, Christopher R. PY - 2015 TI - Gene therapy in myotubular myopathy: promising progress and future directions JF - Annals of Translational Medicine; Vol 3, No 5 (April 13, 2015): Annals of Translational Medicine Y2 - 2015 KW - N2 - X-linked myotubular myopathy (MTM; OMIM 310400) is a severe congenital myopathy that is classified as one of the centronuclear myopathies (1). MTM is estimated to affect 1/50,000 live born males and is due to loss of function mutations in MTM1 , which encodes myotubularin, a ubiquitously expressed lipid phosphatase (2,3). The function of myotubularin is still not entirely clear, but a picture is starting to emerge in which myotubularin is a critical maintenance protein of the myofiber sarcotubular system and has a role in excitation-contraction coupling (4-7). UR - https://atm.amegroups.org/article/view/6097