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Myopathies, Structural, Congenital

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  16. X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. Lehesjoki, A.E., Sankila, E.M., Miao, J., Somer, M., Salonen, R., Rapola, J., de la Chapelle, A. J. Med. Genet. (1990) [Pubmed]
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  24. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim, S.A., Taylor, G.S., Torgersen, K.M., Dixon, J.E. J. Biol. Chem. (2002) [Pubmed]
  25. The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. Srivastava, S., Li, Z., Lin, L., Liu, G., Ko, K., Coetzee, W.A., Skolnik, E.Y. Mol. Cell. Biol. (2005) [Pubmed]
  26. Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity. Walker, D.M., Urbé, S., Dove, S.K., Tenza, D., Raposo, G., Clague, M.J. Curr. Biol. (2001) [Pubmed]
  27. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Tanner, S.M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S. Hum. Mutat. (1998) [Pubmed]
  28. Expression of plectin in muscle fibers with cytoarchitectural abnormalities. Vita, G., Monici, M.C., Owaribe, K., Messina, C. Neuromuscul. Disord. (2003) [Pubmed]
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