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References

These sources were used to develop the Genetics Home Reference gene summary on the MTM1 gene.

Begley MJ, Dixon JE. The structure and regulation of myotubularin phosphatases. Curr Opin Struct Biol. 2005 Dec;15(6):614-20. Epub 2005 Nov 9. Review. PubMed citation
Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28. PubMed citation
Entrez Gene
McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002 Dec;12(10):939-46. PubMed citation
OMIM: MYOTUBULARIN
Robinson FL, Dixon JE. Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol. 2006 Aug;16(8):403-12. Epub 2006 Jul 7. Review. PubMed citation
Tronchère H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, Mandel JL, Payrastre B. Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem. 2004 Feb 20;279(8):7304-12. Epub 2003 Dec 1. PubMed citation

Reviewed: September 2008

Published: May 20, 2013