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Gene therapy in myotubular myopathy: promising progress and future directions

  
@article{ATM6097,
	author = {Christopher R. Pierson},
	title = {Gene therapy in myotubular myopathy: promising progress and future directions},
	journal = {Annals of Translational Medicine},
	volume = {3},
	number = {5},
	year = {2015},
	keywords = {},
	abstract = {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).},
	issn = {2305-5847},	url = {http://atm.amegroups.com/article/view/6097}
}