The following scientific publications are recommended for their contributions to the field and general interest to families affected by MTM-CNM. They are freely available online, thanks to their respective publishers. Additional articles, including those that may require a subscription or fee to access, may be found by searching PubMed.
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ABOUT MYOTUBULAR AND CENTRONUCLEAR MYOPATHY
X-linked myotubular and centronuclear myopathies. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64 Centronuclear (myotubular) myopathy. Jungbluth H, Wallgren-Pettersson C, Laporte J. Orphanet J Rare Dis. 2008 Sep 25;3:26. Clinical utility gene card for: Centronuclear and myotubular myopathies. Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Eur J Hum Genet. 2012 Oct;20(10). Pathogenic mechanisms in centronuclear myopathies. Jungbluth H, Gautel M. Front Aging Neurosci. 2014 Dec 19;6:339. Respiratory assessment in centronuclear myopathies. Smith BK, Goddard M, Childers MK. Muscle Nerve. 2014 Sep;50(3):315-26. A natural history study of X-linked myotubular myopathy Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ. Neurology. 2017 Sep 26;89(13):1355-1364. 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. 2016 Apr-May;26(4-5):292-9. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. J Neuropathol Exp Neurol. 2016 Feb;75(2):102-10. THERAPEUTIC APPROACHES Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy Gayi E, Neff LA, Massana Muñoz X, Ismail HM, Sierra M, Mercier T, Décosterd LA, Laporte J, Cowling BS, Dorchies OM, Scapozza L. Nat Commun. 2018 Nov 19;9(1):4848. Tamoxifen therapy in a murine model of myotubular myopathy Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ. Nat Commun. 2018 Nov 19;9(1):4849. Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. Tasfaout H, Buono S, Guo S, Kretz C, Messaddeq N, Booten S, Greenlee S, Monia BP, Cowling BS, Laporte J. Nat Commun. 2017 Jun 7;8:15661 PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ. J Clin Invest. 2016 Sep 1;126(9):3613-25. Gene therapy in myotubular myopathy: promising progress and future directions. Pierson CR. Ann Transl Med. 2015 Apr;3(5):61. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. 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. Sci Transl Med. 2014 Jan 22;6(220):220ra10. Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J. J Clin Invest. 2014 Mar;124(3):1350-63. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. 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. Hum Mol Genet. 2013 Apr 15;22(8):1525-38. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. 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. Dis Model Mech. 2012 Nov;5(6):852-9. Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH. Am J Pathol. 2011 Feb;178(2):784-93. doi: 10.1016/j.ajpath.2010.10.035. Erratum in: Am J Pathol. 2011 Mar;178(3):1406. X-linked myotubular myopathy and pulmonary blebs: Not just a muscle disorder. Graham RJ, Ward E. Muscle Nerve. 2019 Dec;60(6):E36-E38. |
The first published use of the term "myotubular myopathy" was in 1966 in the Archives of Neurology, by Dr. Alfred Spiro.
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