1. Kioschis, P, Wiemann, S, Heiss, N S, Nordsiek, G, Rosenthal, A. . Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). In Genomics, 54, 256-66. doi:. https://pubmed.ncbi.nlm.nih.gov/9828128/
2. Buj-Bello, Anna, Furling, Denis, Tronchère, Hélène, Butler-Browne, Gillian S, Mandel, Jean-Louis. . Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. In Human molecular genetics, 11, 2297-307. doi:. https://pubmed.ncbi.nlm.nih.gov/12217958/
3. Santoro, Massimo, Modoni, Anna, Masciullo, Marcella, Tonali, Pietro Attilio, Silvestri, Gabriella. 2010. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). In Experimental and molecular pathology, 89, 158-68. doi:10.1016/j.yexmp.2010.05.007. https://pubmed.ncbi.nlm.nih.gov/20685272/
4. Laporte, J, Biancalana, V, Tanner, S M, Liechti-Gallati, S, Mandel, J L. . MTM1 mutations in X-linked myotubular myopathy. In Human mutation, 15, 393-409. doi:. https://pubmed.ncbi.nlm.nih.gov/10790201/
5. Danièle, Nathalie, Moal, Christelle, Julien, Laura, Lawlor, Michael W, Buj-Bello, Ana. . Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. In Journal of neuropathology and experimental neurology, 77, 282-295. doi:10.1093/jnen/nly002. https://pubmed.ncbi.nlm.nih.gov/29408998/
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