Citations for
1MTM1
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.
Hum Mol Genet 26(2):320-332. doi: 10.1093/hmg/ddw388. 2017
2MTM1
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.
Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, Allard B, Lawlor MW, Buj-Bello A, Jacquemond V.
Proc Natl Acad Sci U S A 113(50):14432-14437. Epub 2016 Nov 28. 2016
3MTM1
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V.
Neuromuscul Disord 26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. 2016
4MTM1, SPEG
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.
Am J Hum Genet 95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31. 2014
5BIN1, MTM1
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Royer B, Hnia K, Gavriilidis C, Tronchère H, Tosch V, Laporte J.
EMBO Rep 14(10):907-15. doi: 10.1038/embor.2013.119. Epub 2013 Aug 6. 2013
6MTM1
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.
PLoS Genet 9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20. 2013
7MTM1
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J.
FASEB J 27(8):3384-94. doi: 10.1096/fj.12-220947. Epub 2013 May 21. 2013
8MTM1, PYKFYVE
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Amoasii L, Hnia K, Chicanne G, Brech A, Cowling BS, Müller MM, Schwab Y, Koebel P, Ferry A, Payrastre B, Laporte J.
J Cell Sci 126(Pt 8):1806-19. doi: 10.1242/jcs.118505. Epub 2013 Feb 26. 2013
9MTM1
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
Vasli N, Laugel V, Böhm J, Lannes B, Biancalana V, Laporte J.
Eur J Hum Genet 20(6):701-4. doi: 10.1038/ejhg.2011.256. Epub 2012 Jan 18. 2012
10MTM1
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.
PLoS Genet 8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11. 2012
11MTM1
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.
Am J Pathol 181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27. 2012
12DES, MTM1
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.
J Clin Invest 121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6. 2011
13MTM1
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Razidlo GL, Katafiasz D, Taylor GS.
J Biol Chem 286(22):20005-19. doi: 10.1074/jbc.M110.197749. Epub 2011 Apr 8. 2011
14MTM1
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL.
PLoS Genet 5(2):e1000372. Epub 2009 Feb 6. 2009
15MTM1
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR, Agrawal PB, Blasko J, Beggs AH.
Neuromuscul Disord 17(7):562-8. Epub 2007 May 29. Erratum in: Neuromuscul Disord. 2008 Jun;18(6):519. 2007
16MTM1
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.
Neuromuscul Disord 15(3):245-52. Epub 2005 Jan 28. 2005
17MTM1
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
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.
Hum Genet 112(2):135-42. 2003
18MTM1, MTMR8
The myotubularin family: from genetic disease to phosphoinositide metabolism.
Laporte J, Blondeau F, Buj-Bello A, Mandel JL.
Trends Genet 17(4):221-8. 2001
19MTM1
MTM1 mutations in X-linked myotubular myopathy.
Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.
Hum Mutat 15(5):393-409. Review. 2000
20MTM1
Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
Taylor GS, Maehama T, Dixon JE.
Proc Natl Acad Sci U S A 97(16):8910-5. 2000
21MTM1, MAMLD1, MSDX
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.
Bartsch O, et al.
Cytogenet Cell Genet 85(3-4):310-314. 1999
22MTM1
Germline mosaicism in X-linked myotubular myopathy.
Hane BG, et al.
Clin Genet 56(1):77-81. 1999
23MTM1
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A, et al.
Hum Mutat 14(4):320-325 1999
24ACR, MTM1, SETDB1
Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids.
Harte PJ, Wu W, Carrasquillo MM, Matera AG.
Cytogenet Cell Genet 84(1-2):83-6. 1999
25MTM1
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Vincent MC, et al.
J Med Genet 35 : 241-243. 1998
26MTM1, SBF1
Association of SET domain and myotubularin-related proteins modulates growth control.
Cui X, et al.
Nat Genet 18 : 331-337. 1998
27MTM1
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL.
Eur J Hum Genet 6(4):325-30. 1998
28MTM1, MTMR1, MTMR2, MTMR3, MTMR4, MTMR6, MTMR7, SBF1
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Laporte J, et al.
Hum Mol Genet 7 : 1703-1712. 1998
29MTM1, MTMR1
Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).
Kioschis P, et al.
Genomics 54 : 256-266. 1998
30KMT2D, MTM1, SETDB1, WHSC1
SET domain proteins modulate chromatin domains in eu- and heterochromatin.
Jenuwein T, et al.
Cell Mol Life Sci 54(1):80-93. Review. 1998
31MTM1
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL.
Am J Hum Genet 60(6):1542-4. 1997
32MTM1
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E.
Hum Mol Genet 6(9):1505-11. 1997
33MTM1
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE.
Hum Mol Genet 6(9):1499-504. 1997
34MAMLD1, MTM1, MSDX
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL,Dahl N.
Genomics 41(3):458-62. 1997
35MSDX, MTM1
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Hu LJ, et al.
Hum Mol Genet 5 : 139-143. 1996
36MTM1, D0S1366E, MAMLD1, XAP81, XAP82, XAP83, XAP84, XAP85, XAP87, XAP88, XAP89, XAP90
A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).
Kioschis P, et al.
Genomics 33 : 365-373. 1996
37MSDX, MTM1
X-linked myotubular myopathy : refinement of the gene to a 280-kb regionwith new and highly informative microsatellite markers.
Hu LJ, et al.
Hum Genet 98 : 178-181. 1996
38MTM1, MTMR1
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Laporte J, et al.
Nat Genet 13 : 175-182. 1996
39ATP2B3, MTM1
Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1).
Smolenicka Z, et al.
Hum Genet 98 : 681-684. 1996
40MTM1
X-linked myotubular myopathy : refinement of the critical gene region.
Smolenicka Z, et al.
Neuromuscul Disord 6 : 275-281. 1996
41MTM1
X-linked myotubular myopathy : clinical observations in ten additional cases.
Joseph M, et al.
Am J Med Genet 59 : 168-173. 1995
42MTM1
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
Dahl N, et al.
Am J Hum Genet 56 : 1108-1115. 1995
43MTM1
Genetic linkage heterogeneity in myotubular myopathy.
Samson F, et al.
Am J Hum Genet 57 : 120-126. 1995
44MSDX, MTM1
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region.
Dahl N, et al.
Am J Hum Genet 56 : 1108-1116. 1995
45CNM1, MYF6, MTMR14, MTM1, DNM2
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.
J Med Genet 32(9):673-9. Review. 1995
46MTM1
The gene for X-linked myotubumar myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.
Janssen EAM, et al.
Neuromuscul Disord 4 : 455-461. 1994
47MTM1
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Dahl N, et al.
J Med Genet 31 : 922-924. 1994
48MTM1
Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy.
Dahl N, et al.
Cytogenet Cell Genet 64 : 181. 1993
49MTM1
X linked neonatal centronuclear/myotubular myopathy : evidence for linkage to Xq28 DNA marker loci.
Thomas NST, et al.
J Med Genet 27 : 284-287. 1990
50MTM1
X-linked myotubular myopathy : a linkage study.
Darnfors C, et al.
Clin Genet 37 : 335-340. 1990
51MTM1
A linkage study of a large pedigree with X linked centronuclear myopathy.
Starr J, et al.
J Med Genet 27 : 281-283. 1990
52MTM1
X linked neonatal myotubular myopathy : one recombination detected with four polymorphic DNA markers from Xq28.
Lehesjoki AE, et al.
J Med Genet 27 : 288-291. 1990
53MTM1
X-linked myotubular myopathy (MTM1) : evidence for linkage to Xq28 DNA markers.
Thomas NST, et al.
(HGM9) Cytogenet Cell Genet 46 : 704. 1987