{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:56:59Z","timestamp":1791349019013,"version":"4.3.1"},"reference-count":132,"publisher":"Frontiers Media SA","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Front. Aging Neurosci."],"DOI":"10.3389\/fnagi.2014.00339","type":"journal-article","created":{"date-parts":[[2014,12,19]],"date-time":"2014-12-19T14:46:05Z","timestamp":1419000365000},"source":"Crossref","is-referenced-by-count":124,"title":["Pathogenic Mechanisms in Centronuclear Myopathies"],"prefix":"10.3389","volume":"6","author":[{"given":"Heinz","family":"Jungbluth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Gautel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2014,12,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3384","DOI":"10.1096\/fj.12-220947","article-title":"Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways","volume":"27","author":"Al-Qusairi","year":"2013","journal-title":"FASEB J."},{"key":"B2","doi-asserted-by":"publisher","first-page":"18763","DOI":"10.1073\/pnas.0900705106","article-title":"T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase","volume":"106","author":"Al-Qusairi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B3","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1016\/j.nmd.2012.11.010","article-title":"Large duplication in MTM1 associated with myotubular myopathy","volume":"23","author":"Amburgey","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"B4","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1007\/978-94-007-5025-8_10","article-title":"Myotubularin phosphoinositide phosphatases in human diseases","volume":"362","author":"Amoasii","year":"2012","journal-title":"Curr. Top. Microbiol. Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1086\/375034","article-title":"Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma","volume":"72","author":"Azzedine","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1042\/BJ20071427","article-title":"The regulation and function of class III PI3Ks: novel roles for Vps34","volume":"410","author":"Backer","year":"2008","journal-title":"Biochem. J."},{"key":"B7","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1083\/jcb.200208109","article-title":"Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles","volume":"160","author":"Bagnato","year":"2003","journal-title":"J. Cell Biol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1161\/hh2301.100981","article-title":"The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system","volume":"89","author":"Bang","year":"2001","journal-title":"Circ. Res."},{"key":"B9","doi-asserted-by":"publisher","first-page":"14697","DOI":"10.1073\/pnas.1003677107","article-title":"MTM1 mutation associated with X-linked myotubular myopathy in labrador retrievers","volume":"107","author":"Beggs","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B10","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1016\/j.sbi.2005.10.016","article-title":"The structure and regulation of myotubularin phosphatases","volume":"15","author":"Begley","year":"2005","journal-title":"Curr. Opin. Struct. Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1093\/hmg\/11.13.1569","article-title":"Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1","volume":"11","author":"Berger","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/j.1365-2990.2010.01149.x","article-title":"Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization","volume":"37","author":"Bevilacqua","year":"2011","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s00439-002-0869-1","article-title":"Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype","volume":"112","author":"Biancalana","year":"2003","journal-title":"Hum. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1002\/ana.21235","article-title":"Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset","volume":"62","author":"Bitoun","year":"2007","journal-title":"Ann. Neurol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1038\/ng1657","article-title":"Mutations in dynamin 2 cause dominant centronuclear myopathy","volume":"37","author":"Bitoun","year":"2005","journal-title":"Nat. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2223","DOI":"10.1093\/oxfordjournals.hmg.a018913","article-title":"Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway","volume":"9","author":"Blondeau","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1002\/humu.22067","article-title":"Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy","volume":"33","author":"Bohm","year":"2012a","journal-title":"Hum. Mutat."},{"key":"B18","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1007\/s00401-012-1007-3","article-title":"Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation","volume":"124","author":"Bohm","year":"2012b","journal-title":"Acta Neuropathol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"3160","DOI":"10.1093\/brain\/awu272","article-title":"Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations","volume":"137","author":"Bohm","year":"2014","journal-title":"Brain"},{"key":"B20","doi-asserted-by":"publisher","first-page":"e1003430","DOI":"10.1371\/journal.pgen.1003430","article-title":"Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy","volume":"9","author":"Bohm","year":"2013","journal-title":"PLoS Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1750-1172-5-35","article-title":"Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation","volume":"5","author":"Bohm","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"B22","doi-asserted-by":"publisher","first-page":"15060","DOI":"10.1073\/pnas.212498399","article-title":"The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice","volume":"99","author":"Buj-Bello","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B23","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/embor.2012.89","article-title":"Nuclear movement during myotube formation is microtubule and dynein dependent and is regulated by Cdc42, Par6 and Par3","volume":"13","author":"Cadot","year":"2012","journal-title":"EMBO Rep."},{"key":"B24","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1002\/ana.21089","article-title":"C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy","volume":"61","author":"Carmignac","year":"2007","journal-title":"Ann. Neurol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.nmd.2012.12.009","article-title":"Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort","volume":"23","author":"Catteruccia","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1016\/j.cub.2012.06.029","article-title":"Phosphatidylinositol-3-phosphate clearance plays a key role in autophagosome completion","volume":"22","author":"Cebollero","year":"2012","journal-title":"Curr. Biol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1212\/WNL.0b013e3182a6ca62","article-title":"Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy","volume":"81","author":"Ceyhan-Birsoy","year":"2013","journal-title":"Neurology"},{"key":"B28","doi-asserted-by":"publisher","first-page":"4608","DOI":"10.1093\/hmg\/ddq388","article-title":"Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies","volume":"19","author":"Charton","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"980","DOI":"10.1093\/hmg\/ddt494","article-title":"Recessive TTN truncating mutations define novel forms of core myopathy with heart disease","volume":"23","author":"Chauveau","year":"2014a","journal-title":"Hum. Mol. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"1046","DOI":"10.1002\/humu.22611","article-title":"A rising titan: TTN review and mutation update","volume":"35","author":"Chauveau","year":"2014b","journal-title":"Hum. Mutat."},{"key":"B31","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1212\/WNL.0b013e3181cef7f9","article-title":"Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation","volume":"74","author":"Claeys","year":"2010","journal-title":"Neurology"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1111\/j.1600-0854.2005.00338.x","article-title":"The myotubularin family of lipid phosphatases","volume":"6","author":"Clague","year":"2005","journal-title":"Traffic"},{"key":"B33","doi-asserted-by":"publisher","first-page":"E1544","DOI":"10.1002\/humu.21278","article-title":"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion","volume":"31","author":"Clarke","year":"2010","journal-title":"Hum. Mutat."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1172\/JCI71206","article-title":"Reducing dynamin 2 expression rescues X-linked centronuclear myopathy","volume":"124","author":"Cowling","year":"2014","journal-title":"J. Clin. Invest."},{"key":"B35","doi-asserted-by":"publisher","first-page":"e1002595","DOI":"10.1371\/journal.pgen.1002595","article-title":"Defective membrane remodeling in neuromuscular diseases: insights from animal models","volume":"8","author":"Cowling","year":"2012","journal-title":"PLoS Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1038\/ng.2497","article-title":"Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy","volume":"45","author":"Cullup","year":"2013","journal-title":"Nat. Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1091\/mbc.E03-08-0605","article-title":"Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans","volume":"15","author":"Dang","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"B38","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1242\/dmm.009746","article-title":"Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models","volume":"5","author":"Dowling","year":"2012","journal-title":"Dis. Model Mech."},{"key":"B39","doi-asserted-by":"publisher","first-page":"2668","DOI":"10.1093\/hmg\/ddq153","article-title":"Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy","volume":"19","author":"Dowling","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B40","doi-asserted-by":"publisher","first-page":"e1000372","DOI":"10.1371\/journal.pgen.1000372","article-title":"Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy","volume":"5","author":"Dowling","year":"2009","journal-title":"PLoS Genet."},{"key":"B41","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1007\/s00109-009-0587-4","article-title":"Dynamin 2 and human diseases","volume":"88","author":"Durieux","year":"2010a","journal-title":"J. Mol. Med."},{"key":"B42","doi-asserted-by":"publisher","first-page":"4820","DOI":"10.1093\/hmg\/ddq413","article-title":"A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice","volume":"19","author":"Durieux","year":"2010b","journal-title":"Hum. Mol. Genet."},{"key":"B43","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1111\/j.1600-0854.2012.01348.x","article-title":"A centronuclear myopathy \u00e2\u20ac\u201c dynamin 2 mutation impairs autophagy in mice","volume":"13","author":"Durieux","year":"2012","journal-title":"Traffic"},{"key":"B44","doi-asserted-by":"publisher","first-page":"1710","DOI":"10.4161\/auto.25367","article-title":"Ca2+ in quality control: an unresolved riddle critical to autophagy and mitophagy","volume":"9","author":"East","year":"2013","journal-title":"Autophagy"},{"key":"B45","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1016\/j.nmd.2007.06.467","article-title":"Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation","volume":"17","author":"Echaniz-Laguna","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"B46","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1212\/01.wnl.0000265820.51075.61","article-title":"Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease","volume":"69","author":"Fabrizi","year":"2007","journal-title":"Neurology"},{"key":"B47","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.15252\/emmm.201404436","article-title":"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","volume":"6","author":"Falcone","year":"2014","journal-title":"EMBO Mol. Med."},{"key":"B48","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1128\/MCB.01075-12","article-title":"Defective autophagy and mTORC1 signaling in myotubularin null mice","volume":"33","author":"Fetalvero","year":"2013","journal-title":"Mol. Cell. Biol."},{"key":"B49","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.1093\/brain\/awl071","article-title":"Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy","volume":"129","author":"Fischer","year":"2006","journal-title":"Brain"},{"key":"B50","doi-asserted-by":"publisher","first-page":"1841","DOI":"10.1242\/jcs.028019","article-title":"Interactions with titin and myomesin target obscurin and its small homologue, obscurin-like 1, to the sarcomeric M-band: implications for hereditary myopathies","volume":"121","author":"Fukuzawa","year":"2008","journal-title":"J. Cell. Sci."},{"key":"B51","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.tcb.2010.03.002","article-title":"The Beclin 1-VPS34 complex \u00e2\u20ac\u201c at the crossroads of autophagy and beyond","volume":"20","author":"Funderburk","year":"2010","journal-title":"Trends Cell Biol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s00424-011-0946-1","article-title":"Cytoskeletal protein kinases: titin and its relations in mechanosensing","volume":"462","author":"Gautel","year":"2011","journal-title":"Pflugers Arch."},{"key":"B53","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.ceb.2014.02.005","article-title":"The protein-vesicle network of autophagy","volume":"29C","author":"Ge","year":"2014","journal-title":"Curr. Opin. Cell Biol."},{"key":"B54","doi-asserted-by":"publisher","first-page":"308","DOI":"10.4161\/cib.20076","article-title":"New Ca(2+)-dependent regulators of autophagosome maturation","volume":"5","author":"Ghislat","year":"2012","journal-title":"Commun. Integr. Biol."},{"key":"B55","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s00109-013-0994-4","article-title":"Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy","volume":"91","author":"Gibbs","year":"2013","journal-title":"J. Mol. Med."},{"key":"B56","doi-asserted-by":"publisher","first-page":"3593","DOI":"10.1038\/emboj.2010.249","article-title":"Direct dynamin-actin interactions regulate the actin cytoskeleton","volume":"29","author":"Gu","year":"2010","journal-title":"EMBO J."},{"key":"B57","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1007\/s00415-010-5889-5","article-title":"Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations","volume":"258","author":"Hanisch","year":"2011","journal-title":"J. Neurol."},{"key":"B58","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"B59","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/S0022-3476(99)70417-8","article-title":"Medical complications in long-term survivors with X-linked myotubular myopathy","volume":"134","author":"Herman","year":"1999","journal-title":"J. Pediatr."},{"key":"B60","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1002\/humu.10033","article-title":"Characterization of mutations in fifty North American patients with X-linked myotubular myopathy","volume":"19","author":"Herman","year":"2002","journal-title":"Hum. Mutat."},{"key":"B61","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1172\/JCI44021","article-title":"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle","volume":"121","author":"Hnia","year":"2011","journal-title":"J. Clin. Invest."},{"key":"B62","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/nm.3543","article-title":"Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia","volume":"20","author":"Hong","year":"2014","journal-title":"Nat. Med."},{"key":"B63","doi-asserted-by":"publisher","first-page":"430","DOI":"10.5414\/NPP27430","article-title":"Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature","volume":"27","author":"Jeub","year":"2008","journal-title":"Clin. Neuropathol."},{"key":"B64","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1126\/science.279.5350.573","article-title":"Role of dynamin in the formation of transport vesicles from the trans-Golgi network","volume":"279","author":"Jones","year":"1998","journal-title":"Science"},{"key":"B65","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1002\/ajmg.1320590211","article-title":"X-linked myotubular myopathy: clinical observations in ten additional cases","volume":"59","author":"Joseph","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B66","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.nmd.2009.10.005","article-title":"Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation","volume":"20","author":"Jungbluth","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"B67","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0960-8966(02)00194-3","article-title":"Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation","volume":"13","author":"Jungbluth","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"B68","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.spen.2011.10.005","article-title":"Core myopathies","volume":"18","author":"Jungbluth","year":"2011","journal-title":"Semin. Pediatr. Neurol."},{"key":"B69","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1750-1172-3-26","article-title":"Centronuclear (myotubular) myopathy","volume":"3","author":"Jungbluth","year":"2008","journal-title":"Orphanet J. Rare Dis."},{"key":"B70","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1016\/j.nmd.2007.01.016","article-title":"Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene","volume":"17","author":"Jungbluth","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"B71","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1002\/humu.22056","article-title":"Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies","volume":"33","author":"Klein","year":"2012","journal-title":"Hum. Mutat."},{"key":"B72","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.devcel.2013.08.021","article-title":"Deuterosome-mediated centriole biogenesis","volume":"27","author":"Klos Dehring","year":"2013","journal-title":"Dev. Cell"},{"key":"B73","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1091\/mbc.E02-07-0411","article-title":"Obscurin is a ligand for small ankyrin 1 in skeletal muscle","volume":"14","author":"Kontrogianni-Konstantopoulos","year":"2003","journal-title":"Mol. Biol. Cell"},{"key":"B74","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/ejhg.2012.226","article-title":"Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome","volume":"21","author":"Koutsopoulos","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"B75","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1038\/nrm3696","article-title":"The autophagosome: origins unknown, biogenesis complex","volume":"14","author":"Lamb","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B76","doi-asserted-by":"publisher","first-page":"2640","DOI":"10.1242\/jcs.046193","article-title":"Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum","volume":"122","author":"Lange","year":"2009","journal-title":"J. Cell. Sci."},{"key":"B77","doi-asserted-by":"publisher","first-page":"R285","DOI":"10.1093\/hmg\/ddg273","article-title":"Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases","volume":"2","author":"Laporte","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B78","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1002\/(SICI)1098-1004(200005)15:5393::AID-HUMU13.0.CO;2-R","article-title":"MTM1 mutations in X-linked myotubular myopathy","volume":"15","author":"Laporte","year":"2000","journal-title":"Hum. Mutat."},{"key":"B79","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/S0168-9525(01)02245-4","article-title":"The myotubularin family: from genetic disease to phosphoinositide metabolism","volume":"17","author":"Laporte","year":"2001","journal-title":"Trends Genet."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1093\/hmg\/7.11.1703","article-title":"Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human","volume":"7","author":"Laporte","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"B81","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/ng0696-175","article-title":"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast","volume":"13","author":"Laporte","year":"1996","journal-title":"Nat. Genet."},{"key":"B82","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/j.ajpath.2012.05.016","article-title":"Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment","volume":"181","author":"Lawlor","year":"2012","journal-title":"Am. J. Pathol."},{"key":"B83","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1111\/j.1651-2227.1988.tb10714.x","article-title":"High stature in neonatal myotubular myopathy","volume":"77","author":"Leguennec","year":"1988","journal-title":"Acta Paediatr. Scand."},{"key":"B84","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1016\/j.nmd.2010.07.273","article-title":"Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation","volume":"20","author":"Liewluck","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"B85","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1073\/pnas.1000824108","article-title":"TAN lines: a novel nuclear envelope structure involved in nuclear positioning","volume":"2","author":"Luxton","year":"2011","journal-title":"Nucleus"},{"key":"B86","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/j.ajhg.2012.06.012","article-title":"Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores","volume":"91","author":"Majczenko","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"B87","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1002\/ajmg.a.33296","article-title":"Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy","volume":"152A","author":"McClelland","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"B88","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/ng0305-215","article-title":"Dynamin in disease","volume":"37","author":"McNiven","year":"2005","journal-title":"Nat. Genet."},{"key":"B89","doi-asserted-by":"publisher","first-page":"563","DOI":"10.4161\/auto.7.6.14873","article-title":"Vps34 is a phosphatidylinositol 3-kinase, not a phosphoinositide 3-kinase","volume":"7","author":"Meijer","year":"2011","journal-title":"Autophagy"},{"key":"B90","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1016\/j.nmd.2014.03.009","article-title":"201st ENMC international workshop: autophagy in muscular dystrophies \u00e2\u20ac\u201c translational approach, 1-3 November 2013, Bussum, The Netherlands","volume":"24","author":"Merlini","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"B91","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1038\/nature10914","article-title":"MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function","volume":"484","author":"Metzger","year":"2012","journal-title":"Nature"},{"key":"B92","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1101\/gad.1599207","article-title":"Autophagy: process and function","volume":"21","author":"Mizushima","year":"2007","journal-title":"Genes Dev."},{"key":"B93","doi-asserted-by":"publisher","first-page":"4295","DOI":"10.1128\/MCB.23.12.4295-4306.2003","article-title":"Targeted disruption of the murine Bin1\/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation","volume":"23","author":"Muller","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"B94","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1242\/dev.060012","article-title":"The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5-CED-12 in C. elegans","volume":"138","author":"Neukomm","year":"2011","journal-title":"Development"},{"key":"B95","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1038\/ng2086","article-title":"Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy","volume":"39","author":"Nicot","year":"2007","journal-title":"Nat. Genet."},{"key":"B96","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1007\/978-1-4899-8032-8_23","article-title":"Connecting the nucleus to the cytoskeleton for nuclear positioning and cell migration","volume":"773","author":"Osorio","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"B97","doi-asserted-by":"publisher","first-page":"3567","DOI":"10.1091\/mbc.E04-03-0209","article-title":"Essential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast","volume":"15","author":"Parrish","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"B98","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1126\/science.1092586","article-title":"BAR domains as sensors of membrane curvature: the amphiphysin BAR structure","volume":"303","author":"Peter","year":"2004","journal-title":"Science"},{"key":"B99","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1093\/hmg\/ddr512","article-title":"Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype","volume":"21","author":"Pierson","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"B100","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1038\/emboj.2009.366","article-title":"DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis","volume":"29","author":"Pietri-Rouxel","year":"2010","journal-title":"EMBO J."},{"key":"B101","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nrm1313","article-title":"The dynamin superfamily: universal membrane tubulation and fission molecules?","volume":"5","author":"Praefcke","year":"2004","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B102","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1007\/s00109-014-1138-1","article-title":"Amphiphysin 2 (BIN1) in physiology and diseases","volume":"92","author":"Prokic","year":"2014","journal-title":"J. Mol. Med."},{"key":"B103","doi-asserted-by":"publisher","first-page":"1819","DOI":"10.1016\/j.ajpath.2014.02.012","article-title":"Conditional knockout of pik3c3 causes a murine muscular dystrophy","volume":"184","author":"Reifler","year":"2014","journal-title":"Am. J. Pathol."},{"key":"B104","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/j.nmd.2011.02.012","article-title":"Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies","volume":"21","author":"Robb","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"B105","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.tcb.2006.06.001","article-title":"Myotubularin phosphatases: policing 3-phosphoinositides","volume":"16","author":"Robinson","year":"2006","journal-title":"Trends Cell Biol."},{"key":"B106","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1007\/978-1-60327-115-8_18","article-title":"Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo","volume":"462","author":"Rohde","year":"2009","journal-title":"Methods Mol. Biol."},{"key":"B107","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.nmd.2010.01.014","article-title":"Centronuclear myopathies: a widening concept","volume":"20","author":"Romero","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"B108","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.spen.2011.10.006","article-title":"Centronuclear myopathies","volume":"18","author":"Romero","year":"2011","journal-title":"Semin. Pediatr. Neurol."},{"key":"B109","doi-asserted-by":"publisher","first-page":"2121","DOI":"10.1016\/j.biocel.2013.04.023","article-title":"Protein breakdown in muscle wasting: role of autophagy-lysosome and ubiquitin-proteasome","volume":"45","author":"Sandri","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"B110","doi-asserted-by":"publisher","first-page":"5325","DOI":"10.1242\/jcs.114041","article-title":"Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies","volume":"126","author":"Sandri","year":"2013","journal-title":"J. Cell. Sci."},{"key":"B111","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.nmd.2006.09.013","article-title":"MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement","volume":"17","author":"Schessl","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"B112","doi-asserted-by":"publisher","first-page":"3566","DOI":"10.1093\/hmg\/ddu067","article-title":"Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy","volume":"23","author":"Smith","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"B113","doi-asserted-by":"publisher","first-page":"8910","DOI":"10.1073\/pnas.160255697","article-title":"Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate","volume":"97","author":"Taylor","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B114","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1038\/ncb1112","article-title":"Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion","volume":"6","author":"Thompson","year":"2004","journal-title":"Nat. Cell Biol."},{"key":"B115","doi-asserted-by":"publisher","first-page":"3098","DOI":"10.1093\/hmg\/ddl250","article-title":"A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy","volume":"15","author":"Tosch","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"B116","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s00401-010-0754-2","article-title":"Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies","volume":"121","author":"Toussaint","year":"2011","journal-title":"Acta Neuropathol."},{"key":"B117","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.nmd.2005.06.008","article-title":"Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders","volume":"15","author":"Treves","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"B118","doi-asserted-by":"publisher","first-page":"2084","DOI":"10.1007\/s00018-003-3062-3","article-title":"Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin","volume":"60","author":"Tronchere","year":"2003","journal-title":"Cell. Mol. Life Sci."},{"key":"B119","doi-asserted-by":"publisher","first-page":"7304","DOI":"10.1074\/jbc.M311071200","article-title":"Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells","volume":"279","author":"Tronchere","year":"2004","journal-title":"J. Biol. Chem."},{"key":"B120","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1016\/j.nmd.2011.11.004","article-title":"X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10","volume":"22","author":"Trump","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"B121","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.nmd.2004.12.005","article-title":"Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism","volume":"15","author":"Tsai","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"B122","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.nmd.2011.10.003","article-title":"Distal myopathies \u00e2\u20ac\u201c new genetic entities expand diagnostic challenge","volume":"22","author":"Udd","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"B123","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1083\/jcb.200911020","article-title":"Drosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions","volume":"190","author":"Velichkova","year":"2010","journal-title":"J. Cell Biol."},{"key":"B124","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1016\/j.febslet.2010.02.054","article-title":"The role of PI3P phosphatases in the regulation of autophagy","volume":"584","author":"Vergne","year":"2010","journal-title":"FEBS Lett."},{"key":"B125","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.yjmcc.2013.11.006","article-title":"Proteasomal and lysosomal protein degradation and heart disease","volume":"71","author":"Wang","year":"2013","journal-title":"J. Mol. Cell. Cardiol."},{"key":"B126","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/ana.22119","article-title":"RYR1 mutations are a common cause of congenital myopathies with central nuclei","volume":"68","author":"Wilmshurst","year":"2010","journal-title":"Ann. Neurol."},{"key":"B127","doi-asserted-by":"publisher","first-page":"e93060","DOI":"10.1371\/journal.pone.0093060","article-title":"Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization","volume":"9","author":"Wu","year":"2014","journal-title":"PLoS ONE"},{"key":"B128","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1034\/j.1399-0004.2003.00118.x","article-title":"X-linked myotubular myopathy in a family with three adult survivors","volume":"64","author":"Yu","year":"2003","journal-title":"Clin. Genet."},{"key":"B129","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1002\/humu.22326","article-title":"RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling","volume":"34","author":"Zhou","year":"2013","journal-title":"Hum. Mutat."},{"key":"B130","doi-asserted-by":"publisher","first-page":"4596","DOI":"10.1105\/tpc.113.118307","article-title":"A BAR-domain protein SH3P2, which binds to phosphatidylinositol 3-phosphate and ATG8, regulates autophagosome formation in Arabidopsis","volume":"25","author":"Zhuang","year":"2013","journal-title":"Plant Cell"},{"key":"B131","doi-asserted-by":"publisher","first-page":"e1000679","DOI":"10.1371\/journal.pgen.1000679","article-title":"Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells","volume":"5","author":"Zou","year":"2009","journal-title":"PLoS Genet."},{"key":"B132","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/ng1514","article-title":"Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease","volume":"37","author":"Zuchner","year":"2005","journal-title":"Nat. Genet."}],"container-title":["Frontiers in Aging Neuroscience"],"original-title":[],"deposited":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T19:37:09Z","timestamp":1424288229000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fnagi.2014.00339\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,19]]},"references-count":132,"URL":"https:\/\/doi.org\/10.3389\/fnagi.2014.00339","relation":{},"ISSN":["1663-4365"],"issn-type":[{"value":"1663-4365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,19]]}}}