X-linked myotubular myopathy

Spiro, 1966, Myotubular myopathy. Persistence of fetal muscle in an adolescent boy, Arch Neurol, 14, 1, 10.1001/archneur.1966.00470070005001 Heckmatt, 1985, Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children, Brain, 108, 941, 10.1093/brain/108.4.941 Laporte, 1996, A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast, Nat Genet, 13, 175, 10.1038/ng0696-175 Biancalana, 2012, Clinical utility gene card for: centronuclear and myotubular myopathies, Eur J Hum Genet, 20, 10.1038/ejhg.2012.91 Blondeau, 2000, Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway, Hum Mol Genet, 9, 2223, 10.1093/oxfordjournals.hmg.a018913 Taylor, 2000, Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate, Proc Natl Acad Sci U S A, 97, 8910, 10.1073/pnas.160255697 Buj-Bello, 2002, The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice, Proc Natl Acad Sci U S A, 99, 15060, 10.1073/pnas.212498399 Pierson, 2012, Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype, Hum Mol Genet, 21, 811, 10.1093/hmg/ddr512 Sabha, 2016, PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models, J Clin Invest, 126, 3613, 10.1172/JCI86841 Dowling, 2009, Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy, PLoS Genet, 5, 10.1371/journal.pgen.1000372 Beggs, 2010, MTM1 mutation associated with X-linked myotubular myopathy in Labrador retrievers, Proc Natl Acad Sci U S A, 107, 14697, 10.1073/pnas.1003677107 Shelton, 2015, X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene, Skelet Muscle, 5, 1, 10.1186/s13395-014-0025-3 Olby, 2020, A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels, Neuromuscul Disord, 30, 353, 10.1016/j.nmd.2020.02.021 Al-Qusairi, 2009, T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase, Proc Natl Acad Sci U S A, 106, 18763, 10.1073/pnas.0900705106 Buj-Bello, 2008, AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis, Hum Mol Genet, 17, 2132, 10.1093/hmg/ddn112 Childers, 2014, Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy, Sci Transl Med, 6, 10.1126/scitranslmed.3007523 McEntagart, 2002, Genotype-phenotype correlations in X-linked myotubular myopathy, Neuromuscul Disord, 12, 939, 10.1016/S0960-8966(02)00153-0 Herman, 2002, Characterization of mutations in fifty North American patients with X-linked myotubular myopathy, Hum Mutat, 19, 114, 10.1002/humu.10033 Amburgey, 2017, A natural history study of X-linked myotubular myopathy, Neurology, 89, 1355, 10.1212/WNL.0000000000004415 Beggs, 2018, A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study, Muscle Nerve, 57, 550, 10.1002/mus.26018 Annoussamy, 2019, X-linked myotubular myopathy: a prospective international natural history study, Neurology, 92, e1852, 10.1212/WNL.0000000000007319 Shieh, 2020, Re: "Moving forward after two deaths in a gene therapy trial of myotubular myopathy" by Wilson and Flotte, Hum Gene Ther, 31, 787, 10.1089/hum.2020.217 Lawlor, 2016, Skeletal muscle pathology in X-linked myotubular myopathy: review with cross-species comparisons, J Neuropathol Exp Neurol, 75, 102, 10.1093/jnen/nlv020 Pierson, 2005, X-linked myotubular and centronuclear myopathies, J Neuropathol Exp Neurol, 64, 555, 10.1097/01.jnen.0000171653.17213.2e Lawlor, 2011, Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice, Am J Pathol, 178, 784, 10.1016/j.ajpath.2010.10.035 Mack, 2017, Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs, Mol Ther, 25, 839, 10.1016/j.ymthe.2017.02.004 Pierson, 2007, Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy, Neuromuscul Disord, 17, 562, 10.1016/j.nmd.2007.03.010 Hamanaka, 2016, Muscle from a 20-week-old myotubular myopathy fetus is not myotubular, Neuromuscul Disord, 26, 234, 10.1016/j.nmd.2015.11.010 Biancalana, 2003, Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype, Hum Genet, 112, 135, 10.1007/s00439-002-0869-1 Motoki, 2013, Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report, Neuromuscul Disord, 23, 917, 10.1016/j.nmd.2013.06.008 Molera, 2021, Intrahepatic cholestasis is a clinically significant feature associated with natural history of X-linked myotubular myopathy (XLMTM): A case series and biopsy report, J Neuromuscul Dis., 10.3233/JND-210712 Biancalana, 2017, Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues, Acta Neuropathol, 134, 889, 10.1007/s00401-017-1748-0 Cocanougher, 2019, Adult MTM1-related myopathy carriers: classification based on deep phenotyping, Neurology, 93, e1535, 10.1212/WNL.0000000000008316 Reumers, 2021, Spectrum of clinical features in XL-MTM carriers: an international questionnaire study, Neurology, 10.1212/WNL.0000000000012236 Oliveira, 2013, Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database, Eur J Hum Genet, 21, 540, 10.1038/ejhg.2012.201 Laporte, 1997, Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC international consortium on myotubular myopathy. European neuro-muscular center, Hum Mol Genet, 6, 1505, 10.1093/hmg/6.9.1505 Jungbluth, 2008, Centronuclear (myotubular) myopathy, Orphanet J Rare Dis, 3, 26, 10.1186/1750-1172-3-26 Gonorazky, 2018, The genetics of congenital myopathies, Handb Clin Neurol, 148, 549, 10.1016/B978-0-444-64076-5.00036-3 Tasfaout, 2018, Centronuclear myopathies under attack: a plethora of therapeutic targets, J Neuromuscul Dis, 5, 387, 10.3233/JND-180309 Robinson, 2006, Myotubularin phosphatases: policing 3-phosphoinositides, Trends Cell Biol, 16, 403, 10.1016/j.tcb.2006.06.001 Volpatti, 2019, The expanding spectrum of neurological disorders of phosphoinositide metabolism, Dis Model Mech, 12, 10.1242/dmm.038174 Tronchere, 2004, Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells, J Biol Chem, 279, 7304, 10.1074/jbc.M311071200 Ketel, 2016, A phosphoinositide conversion mechanism for exit from endosomes, Nature, 529, 408, 10.1038/nature16516 Hasegawa, 2017, PI5P and PI(3,5)P2: minor, but essential phosphoinositides, Cell Struct Funct, 42, 49, 10.1247/csf.17003 Fetalvero, 2013, Defective autophagy and mTORC1 signaling in myotubularin null mice, Mol Cell Biol, 33, 98, 10.1128/MCB.01075-12 Al-Qusairi, 2013, Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways, FASEB J, 27, 3384, 10.1096/fj.12-220947 Ribeiro, 2011, Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance, PLoS Genet, 7, 10.1371/journal.pgen.1001295 Gavriilidis, 2018, The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle, Nat Cell Biol, 20, 198, 10.1038/s41556-017-0024-9 Agrawal, 2014, SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy, Am J Hum Genet, 95, 218, 10.1016/j.ajhg.2014.07.004 Royer, 2013, The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies, EMBO Rep, 14, 907, 10.1038/embor.2013.119 Hnia, 2011, Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle, J Clin Invest, 121, 70, 10.1172/JCI44021 Raess, 2017, WANTED - dead or alive: myotubularins, a large disease-associated protein family, Adv Biol Regul, 63, 49, 10.1016/j.jbior.2016.09.001 Gupta, 2013, Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish, PLoS Genet, 9, 10.1371/journal.pgen.1003583 Raess, 2017, Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy, Hum Mol Genet, 26, 3736, 10.1093/hmg/ddx258 Daniele, 2018, Intravenous administration of a MTMR2-encoding AAV vector ameliorates the phenotype of myotubular myopathy in mice, J Neuropathol Exp Neurol, 77, 282, 10.1093/jnen/nly002 Cao, 2008, Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking, Mol Biol Cell, 19, 3334, 10.1091/mbc.e08-04-0367 Pareyson, 2019, A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs), Ann Neurol, 86, 55, 10.1002/ana.25500 Amoasii, 2012, Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice, PLoS Genet, 8, 10.1371/journal.pgen.1002965 Gibbs, 2010, The role of MTMR14 in autophagy and in muscle disease, Autophagy, 6, 819, 10.4161/auto.6.6.12624 Vergne, 2009, Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy, EMBO J, 28, 2244, 10.1038/emboj.2009.159 Cowling, 2014, Reducing dynamin 2 expression rescues X-linked centronuclear myopathy, J Clin Invest, 124, 1350, 10.1172/JCI71206 Liu, 2011, Mice lacking microRNA 133a develop dynamin 2-dependent centronuclear myopathy, J Clin Invest, 121, 3258, 10.1172/JCI46267 Bitoun, 2005, Mutations in dynamin 2 cause dominant centronuclear myopathy, Nat Genet, 37, 1207, 10.1038/ng1657 Zhao, 2018, Dynamin 2 (DNM2) as cause of, and modifier for, human neuromuscular disease, Neurotherapeutics, 15, 966, 10.1007/s13311-018-00686-0 Tasfaout, 2017, Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice, Nat Commun, 8, 15661, 10.1038/ncomms15661 Dowling, 2012, Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models, Dis Model Mech, 5, 852 Robb, 2011, Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies, Neuromuscul Disord, 21, 379, 10.1016/j.nmd.2011.02.012 Dupont, 2020, AAV-mediated gene transfer restores a normal muscle transcriptome in a canine model of X-linked myotubular myopathy, Mol Ther, 28, 382, 10.1016/j.ymthe.2019.10.018 Djeddi, 2021, Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies, Mol Ther, 10.1016/j.ymthe.2021.04.033 Wilson, 2020, Moving forward after two deaths in a gene therapy trial of myotubular myopathy, Hum Gene Ther, 31, 695, 10.1089/hum.2020.182 Cowling, 2017, Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation, J Clin Invest, 127, 4477, 10.1172/JCI90542 Buono, 2018, Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy, Proc Natl Acad Sci U S A, 115, 11066, 10.1073/pnas.1808170115 Gayi, 2018, Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy, Nat Commun, 9, 4848, 10.1038/s41467-018-07058-4 Maani, 2018, Tamoxifen therapy in a murine model of myotubular myopathy, Nat Commun, 9, 4849, 10.1038/s41467-018-07057-5 Duong, 2021, Use of the children's hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND) in X-linked myotubular myopathy: content validity and psychometric performance, J Neuromuscul Dis, 8, 63, 10.3233/JND-200479