Browsing by Author "f5e2234f-7242-4ac1-bbfd-09bf4df83527"
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Bevilacqua, Jorge; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G.; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz (Springer Verlag, 2009)Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...