X-Linked Myotubular Myopathy (2024)

Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. Neurol Genet. 2017;3:e182. [PMC free article: PMC5570672] [PubMed: 28852708]

Al-Qusairi L, Weiss N, Toussaint A, Berby C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel J-L, Jacquemond V, Buj-Bello A. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci (USA). 2009;106:18763–8. [PMC free article: PMC2773964] [PubMed: 19846786]

Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013a;8:117. [PMC free article: PMC3751094] [PubMed: 23919265]

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord. 2013b;23:214–8. [PMC free article: PMC3594803] [PubMed: 23273872]

Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ. A natural history study of X-linked myotubular myopathy. Neurology. 2017;89:1355–64. [PMC free article: PMC5649758] [PubMed: 28842446]

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S. Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. PLoS Genet. 2012;8:e1002965. [PMC free article: PMC3469422] [PubMed: 23071445]

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Hum Mol Genet. 2017;26:320–32. [PubMed: 28007904]

Barth PG, Dubowitz V. X-linked myotubular myopathy--a long-term follow-up study. Eur J Paediatr Neurol. 1998;2:49–56. [PubMed: 10726846]

Bartsch O, Kress W, Wagner A, Seemanova E. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and Step in Xq28:report of the first familial case. Cytogenet Cell Genet. 1999;85:310–4. [PubMed: 10449925]

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study. Muscle Nerve. 2018;57:550–60. [PMC free article: PMC5900738] [PubMed: 29149770]

Bertini E, Biancalana V, Bolino A, Buj Bello A, Clague M, Guicheney P, Jungbluth H, Kress W, Musaro' A, Nandurkar H, Pirola L, Romero N, Senderek J, Suter U, Sewry C, Tronchere H, Wallgren-Pettersson C, Wishart MJ, Laporte J. 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy). Neuromuscul Disord. 2004;14:387–96. [PubMed: 15145343]

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol. 2009;117:283–91. [PubMed: 19084976]

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;112:135–42. [PubMed: 12522554]

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol. 2017;134:889–904. [PubMed: 28685322]

Cahill PJ, Rinella AS, Bielski RJ. Orthopaedic complications of myotubular myopathy. J Pediatr Orthop. 2007;27:98–103. [PubMed: 17195806]

Cao C, Laporte J, Backer JM, Wandinger-Ness A, Stein MP. Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes. Traffic. 2007;8:1052–67. [PubMed: 17651088]

Chaussade C, Pirola L, Bonnafous S, Blondeau F, Brenz-Verca S, Tronchère H, Portis F, Rusconi S, Payrastre B, Laporte J, Van Obberghen E. Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. Mol Endocrinol. 2003;17:2448–60. [PubMed: 14500759]

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med. 2014;6:220ra10. [PMC free article: PMC4105197] [PubMed: 24452262]

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J. Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. J Clin Invest. 2014;124:1350–63. [PMC free article: PMC3938268] [PubMed: 24569376]

Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am J Hum Genet. 1995;56:1108–15. [PMC free article: PMC1801465] [PubMed: 7726166]

de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1499–504. [PubMed: 9285787]

Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech. 2012;5:852–9. [PMC free article: PMC3484867] [PubMed: 22645112]

Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet. 2009;5:e1000372. [PMC free article: PMC2631153] [PubMed: 19197364]

Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER. N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. EMBO Mol Med. 2014;6:1455–75. [PMC free article: PMC4237471] [PubMed: 25262827]

Felice KJ, Whitaker CH, Wu Q. Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: case report and literature review of MTM1 manifesting female carriers. Neuromuscul Disord. 2018;28:339–45. [PubMed: 29567349]

Gavriilidis C, Laredj L, Solinhac R, Messaddeq N, Viaud J, Laporte J, Sumara I, Hnia K. The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. Nat Cell Biol. 2018;20:198–210. [PubMed: 29358706]

Häne BG, Rogers RC, Schwartz CE. Germline mosaicism in X-linked myotubular myopathy. Clin Genet. 1999;56:77–81. [PubMed: 10466421]

Helliwell TR, Ellis IH, Appleton RE. Myotubular myopathy: morphological, immunohistochemical and clinical variation. Neuromuscul Disord. 1998;8:152–61. [PubMed: 9631395]

Hedberg-Oldfors C, Visuttijai K, Topa A, Tulinius M, Oldfors A. Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. Neuromuscul Disord. 2017;27:843–7. [PubMed: 28622964]

Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999;134:206–14. [PubMed: 9931531]

Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002;19:114–21. [PubMed: 11793470]

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest. 2011;121:70–85. [PMC free article: PMC3007152] [PubMed: 21135508]

Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul Disord. 2006;16:749–53. [PubMed: 17005396]

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet. 1996;5:139–43. [PubMed: 8789451]

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018;14:151–67. [PubMed: 29391587]

Ketel K, Krauss M, Nicot AS, Puchkov D, Wieffer M, Müller R, Subramanian D, Schultz C, Laporte J, Haucke V. A phosphoinositide conversion mechanism for exit from endosomes. Nature. 2016;529:408–12. [PubMed: 26760201]

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. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat. 2000;15:393–409. [PubMed: 10790201]

Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001a;17:221–8. [PubMed: 11275328]

Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL. The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci. 2002;115:3105–17. [PubMed: 12118066]

Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. Eur J Hum Genet. 1998;6:325–30. [PubMed: 9781038]

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. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet. 1997;6:1505–11. [PubMed: 9305655]

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175–82. [PubMed: 8640223]

Laporte J, Kress W, Mandel JL. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol. 2001b;50:42–6. [PubMed: 11456308]

Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet. 2013;22:1525–38. [PMC free article: PMC3605830] [PubMed: 23307925]

Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol. 2016;75:102–10. [PMC free article: PMC4765322] [PubMed: 26823526]

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Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet. 2013;21:540–9. [PMC free article: PMC3641378] [PubMed: 22968136]

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