J. Laporte, L. Hu, C. Kretz, J. Mandel, and P. Kioschis, A gene mutated in X???linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast, Nature Genetics, vol.269, issue.2, pp.175-182, 1996.
DOI : 10.1146/annurev.physiol.53.1.201

H. Jungbluth, C. Wallgren-pettersson, and J. Laporte, Centronuclear (myotubular) myopathy, Orphanet Journal of Rare Diseases, vol.3, issue.1, p.26, 2008.
DOI : 10.1186/1750-1172-3-26

URL : https://hal.archives-ouvertes.fr/inserm-00350775

V. Biancalana, O. Caron, S. Gallati, F. Baas, and W. Kress, Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype, Hum Genet, vol.112, pp.135-142, 2003.

A. Buj-bello, V. Laugel, N. Messaddeq, H. Zahreddine, and J. Laporte, The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice, Proceedings of the National Academy of Sciences, vol.99, issue.23, pp.15060-15065, 2002.
DOI : 10.1073/pnas.212498399

J. Laporte, V. Biancalana, S. Tanner, W. Kress, and V. Schneider, MTM1 mutations in X-linked myotubular myopathy, Human Mutation, vol.2, issue.5, pp.393-409, 2000.
DOI : 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

G. Herman, K. Kopacz, W. Zhao, P. Mills, and A. Metzenberg, Characterization of mutations in fifty North American patients with X-linked myotubular myopathy, Human Mutation, vol.270, issue.2, pp.114-121, 2002.
DOI : 10.1002/humu.10033

T. Tsai, H. Horinouchi, S. Noguchi, N. Minami, and K. Murayama, Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism, Neuromuscular Disorders, vol.15, issue.3, pp.245-252, 2005.
DOI : 10.1016/j.nmd.2004.12.005

J. Laporte, W. Kress, and J. Mandel, Diagnosis of X-linked myotubular myopathy by detection of myotubularin, Annals of Neurology, vol.15, issue.1, pp.42-46, 2001.
DOI : 10.1002/ana.1033

V. Tosch, N. Vasli, C. Kretz, A. Nicot, and C. Gasnier, Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations, Neuromuscular Disorders, vol.20, issue.6, pp.375-381, 2010.
DOI : 10.1016/j.nmd.2010.03.015

K. Caldwell, D. Lips, V. Bansal, and P. Majerus, Isolation and characterization of two 3-phosphatases that hydrolyze both phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate, J Biol Chem, vol.266, pp.18378-18386, 1991.

H. Nandurkar, M. Layton, J. Laporte, C. Selan, and L. Corcoran, Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP, Proceedings of the National Academy of Sciences, vol.100, issue.15, pp.8660-8665, 2003.
DOI : 10.1073/pnas.1033097100

G. Taylor, T. Maehama, and J. Dixon, Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate, Proceedings of the National Academy of Sciences, vol.97, issue.16, pp.8910-8915, 2000.
DOI : 10.1073/pnas.160255697

F. Blondeau, J. Laporte, S. Bodin, G. Superti-furga, and B. Payrastre, Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway, Human Molecular Genetics, vol.9, issue.15, pp.2223-2229, 2000.
DOI : 10.1093/oxfordjournals.hmg.a018913

J. Schaletzky, S. Dove, B. Short, O. Lorenzo, and M. Clague, Phosphatidylinositol-5-Phosphate Activation and Conserved Substrate Specificity of the Myotubularin Phosphatidylinositol 3-Phosphatases, Current Biology, vol.13, issue.6, pp.504-509, 2003.
DOI : 10.1016/S0960-9822(03)00132-5

O. Lecompte, O. Poch, and J. Laporte, PtdIns5P regulation through evolution: roles in membrane trafficking?, Trends in Biochemical Sciences, vol.33, issue.10, pp.453-460, 2008.
DOI : 10.1016/j.tibs.2008.07.002

URL : https://hal.archives-ouvertes.fr/inserm-00350907

M. Velichkova, J. Juan, P. Kadandale, S. Jean, and I. Ribeiro, Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions, The Journal of Cell Biology, vol.15, issue.3, pp.407-425, 2010.
DOI : 10.1083/jcb.200911020.dv

S. Dove, K. Dong, T. Kobayashi, F. Williams, and R. Michell, Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function, Biochemical Journal, vol.419, issue.1, pp.1-13, 2009.
DOI : 10.1042/BJ20081950

J. Laporte, F. Bedez, A. Bolino, and J. Mandel, Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases, Human Molecular Genetics, vol.12, issue.suppl 2, pp.285-292, 2003.
DOI : 10.1093/hmg/ddg273

F. Robinson and J. Dixon, Myotubularin phosphatases: policing 3-phosphoinositides, Trends in Cell Biology, vol.16, issue.8, pp.403-412, 2006.
DOI : 10.1016/j.tcb.2006.06.001

W. Parrish, C. Stefan, and S. Emr, Essential Role for the Myotubularin-related Phosphatase Ymr1p and the Synaptojanin-like Phosphatases Sjl2p and Sjl3p in Regulation of Phosphatidylinositol 3-Phosphate in Yeast, Molecular Biology of the Cell, vol.15, issue.8, pp.3567-3579, 2004.
DOI : 10.1091/mbc.E04-03-0209

K. Cox, M. Gattas, P. Harvey, C. Dolphin, and K. Friend, X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths, Clin Genet, vol.67, pp.441-442, 2005.

J. Laporte, L. Liaubet, F. Blondeau, H. Tronchere, and J. Mandel, Functional Redundancy in the Myotubularin Family, Biochemical and Biophysical Research Communications, vol.291, issue.2, pp.305-312, 2002.
DOI : 10.1006/bbrc.2002.6445

W. A-l-k-e-rd, M. U-r-b-es,-d-o-v-es, and K. , ) Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity, Curr Biol, vol.11, pp.1600-1605

J. Gary, A. Wurmser, C. Bonangelino, L. Weisman, and S. Emr, Fab1p Is Essential for PtdIns(3)P 5-Kinase Activity and the Maintenance of Vacuolar Size and Membrane Homeostasis, The Journal of Cell Biology, vol.269, issue.1, pp.65-79, 1998.
DOI : 10.1091/mbc.6.5.525

S. Dove, F. Cooke, M. Douglas, L. Sayers, and P. Parker, Osmotic stress activates phosphatidylinositol-3,5-bisphosphate synthesis, Nature, vol.390, issue.6656, pp.187-192, 1997.
DOI : 10.1038/36613

C. Bonangelino, J. Nau, J. Duex, M. Brinkman, and A. Wurmser, Osmotic stress???induced increase of phosphatidylinositol 3,5-bisphosphate requires Vac14p, an activator of the lipid kinase Fab1p, The Journal of Cell Biology, vol.112, issue.6, pp.1015-1028, 2002.
DOI : 10.1091/mbc.6.5.525

. Tronchereh, . Laportej, . Pendariesc, . Chaussadec, and . Liaubetl, Production of Phosphatidylinositol 5-Phosphate by the Phosphoinositide 3-Phosphatase Myotubularin in Mammalian Cells, Journal of Biological Chemistry, vol.279, issue.8, pp.7304-7312, 2004.
DOI : 10.1074/jbc.M311071200

J. Morris, K. Hinchliffe, A. Ciruela, A. Letcher, and R. Irvine, Thrombin stimulation of platelets causes an increase in phosphatidylinositol 5-phosphate revealed by mass assay, FEBS Letters, vol.329, issue.1, pp.57-60, 2000.
DOI : 10.1016/S0014-5793(00)01625-2

L. Al-qusairi, N. Weiss, A. Toussaint, C. Berbey, and N. Messaddeq, T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase, Proceedings of the National Academy of Sciences, vol.106, issue.44, pp.18763-18768, 2009.
DOI : 10.1073/pnas.0900705106

A. Buj-bello, F. Fougerousse, Y. Schwab, N. Messaddeq, and D. Spehner, AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis, Human Molecular Genetics, vol.17, issue.14, pp.2132-2143, 2008.
DOI : 10.1093/hmg/ddn112

URL : https://hal.archives-ouvertes.fr/inserm-00311078

K. Hnia, H. Tronchere, K. Tomczak, L. Amoasii, and P. Schultz, Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle, Journal of Clinical Investigation, vol.121, issue.1, pp.70-85, 2011.
DOI : 10.1172/JCI44021DS1

J. Dowling, A. Vreede, S. Low, E. Gibbs, and J. Kuwada, Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy, PLoS Genetics, vol.9, issue.2, 2009.
DOI : 10.1371/journal.pgen.1000372.s009

A. Toussaint, B. Cowling, K. Hnia, M. Mohr, and A. Oldfors, Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies, Acta Neuropathologica, vol.18, issue.2, pp.253-266, 2011.
DOI : 10.1007/s00401-010-0754-2

G. Chicanne, S. Severin, C. Boscheron, A. Terrisse, and M. Gratacap, A novel mass assay to quantify the bioactive lipid PtdIns3P in various biological samples, Biochem J, 2012.
URL : https://hal.archives-ouvertes.fr/inserm-00739444

J. Laporte, C. Guiraud-chaumeil, M. Vincent, J. Mandel, and S. Tanner, Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro- Muscular Center, Human Molecular Genetics, vol.6, issue.9, pp.1505-1511, 1997.
DOI : 10.1093/hmg/6.9.1505

M. Begley, G. Taylor, M. Brock, P. Ghosh, and V. Woods, Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase, Proceedings of the National Academy of Sciences, vol.103, issue.4, pp.927-932, 2006.
DOI : 10.1073/pnas.0510006103

I. Ribeiro, L. Yuan, G. Tanentzapf, J. Dowling, and A. Kiger, Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance, PLoS Genetics, vol.19, issue.2, 2011.
DOI : 10.1371/journal.pgen.1001295.s006

C. Pierson, A. Dulin-smith, A. Durban, M. Marshall, and J. Marshall, Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype, Human Molecular Genetics, vol.21, issue.4, pp.811-825, 2012.
DOI : 10.1093/hmg/ddr512

J. Laporte, F. Blondeau, A. Gansmuller, Y. Lutz, and J. Vonesch, The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles, J Cell Sci, vol.115, pp.3105-3117, 2002.

E. Patrucco, A. Notte, L. Barberis, G. Selvetella, and A. Maffei, PI3K?? Modulates the Cardiac Response to Chronic Pressure Overload by Distinct Kinase-Dependent and -Independent Effects, Cell, vol.118, issue.3, pp.375-387, 2004.
DOI : 10.1016/j.cell.2004.07.017

B. Vanhaesebroeck, J. Rohn, and M. Waterfield, Gene Targeting, Cell, vol.118, issue.3, pp.274-276, 2004.
DOI : 10.1016/j.cell.2004.07.018

P. Varnai and T. Balla, Visualization and manipulation of phosphoinositide dynamics in live cells using engineered protein domains, Pfl??gers Archiv - European Journal of Physiology, vol.128, issue.Pt 1, pp.69-82, 2007.
DOI : 10.1007/s00424-007-0270-y

T. Vida and S. Emr, A new vital stain for visualizing vacuolar membrane dynamics and endocytosis in yeast, The Journal of Cell Biology, vol.128, issue.5, pp.779-792, 1995.
DOI : 10.1083/jcb.128.5.779

H. Hama, J. Takemoto, and D. Dewald, Analysis of Phosphoinositides in Protein Trafficking, Methods, vol.20, issue.4, pp.465-473, 2000.
DOI : 10.1006/meth.2000.0959

E. Bligh and W. Dyer, A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION, Canadian Journal of Biochemistry and Physiology, vol.37, issue.8, pp.911-917, 1959.
DOI : 10.1139/o59-099

F. Rivier, A. Robert, M. Royuela, G. Hugon, and A. Bonet-kerrache, Utrophin and dystrophin-associated glycoproteins in normal and dystrophin deficient cardiac muscle, Journal of Muscle Research and Cell Motility, vol.20, issue.3, pp.305-314, 1999.
DOI : 10.1023/A:1005426920070

G. Taylor and J. Dixon, An Assay for Phosphoinositide Phosphatases Utilizing Fluorescent Substrates, Analytical Biochemistry, vol.295, issue.1, pp.122-126, 2001.
DOI : 10.1006/abio.2001.5179