{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T05:46:51Z","timestamp":1793512011550,"version":"4.5.0"},"reference-count":141,"publisher":"Informa UK Limited","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Critical Reviews in Clinical Laboratory Sciences"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.3109\/10408363.2012.658906","type":"journal-article","created":{"date-parts":[[2012,4,2]],"date-time":"2012-04-02T13:12:51Z","timestamp":1333372371000},"page":"33-48","source":"Crossref","is-referenced-by-count":76,"title":["Genetics of neuromuscular disorders"],"prefix":"10.1080","volume":"49","author":[{"given":"Nigel G.","family":"Laing","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2012,4,2]]},"reference":[{"key":"CIT0001","first-page":"1","volume-title":"Neuromuscular Disorders: clinical and molecular genetics","author":"Emery AEH","year":"1998"},{"key":"CIT0002","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmedgenet-2011-100211","volume":"48","author":"Ravenscroft G","year":"2011","journal-title":"J Med Genet"},{"key":"CIT0003","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1097\/00003643-200407000-00013","volume":"21","author":"Krivosic-Horber R","year":"2004","journal-title":"Eur J Anaesthesiol"},{"key":"CIT0004","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1056\/NEJMoa0801936","volume":"359","author":"Link E","year":"2008","journal-title":"N Engl J Med"},{"key":"CIT0005","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/mus.21079","volume":"40","author":"Supala-Berger A","year":"2009","journal-title":"Muscle Nerve"},{"key":"CIT0006","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/S0960-8966(02)00140-2","volume":"12","author":"Eagle M","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"CIT0007","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.nmd.2003.09.003","volume":"14","author":"Wallgren-Pettersson C","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"CIT0008","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/978-90-481-2813-6_2","volume":"652","author":"Sejerson T","year":"2009","journal-title":"Adv Exp Med Biol"},{"key":"CIT0009","volume-title":"Muscle Biopsy a practical approach","author":"Dubowitz V","year":"2007","edition":"3"},{"key":"CIT0010","first-page":"655","volume-title":"Myology","author":"de Visser M","year":"2004","edition":"3"},{"key":"CIT0011","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.nmd.2004.08.005","volume":"14","author":"Jungbluth H","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"CIT0012","doi-asserted-by":"publisher","DOI":"10.1097\/01.wco.0000183947.01362.fe"},{"key":"CIT0013","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1212\/01.wnl.0000324927.28817.9b","volume":"71","author":"Fischer D","year":"2008","journal-title":"Neurology"},{"key":"CIT0014","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1017\/CBO9780511674747.011","volume-title":"Disorders of Voluntary Muscle","author":"Mercuri E","year":"2010","edition":"8"},{"key":"CIT0015","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1001\/archneurol.2011.188","volume":"68","author":"Klein A","year":"2011","journal-title":"Arch Neurol"},{"key":"CIT0016","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1136\/jmg.15.4.249","volume":"15","author":"Bundey S","year":"1978","journal-title":"J Med Genet"},{"key":"CIT0017","unstructured":"Emery AEH, Emery MLH. The history of a genetic disease. Duchenne muscular dystrophy or Meryon\u2019s disease. London, New York: Royal Society of Medicine Press Ltd; 1995."},{"key":"CIT0018","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/oxfordjournals.bmb.a071624","volume":"36","author":"Emery AE","year":"1980","journal-title":"Br Med Bull"},{"key":"CIT0019","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982403"},{"key":"CIT0020","first-page":"145","volume":"11","author":"Hurse PV","year":"1974","journal-title":"Proc Aust Assoc Neurol"},{"key":"CIT0021","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.nmd.2007.08.009","volume":"18","author":"Lo HP","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"CIT0022","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1212\/01.wnl.0000284605.27654.5a","volume":"71","author":"Peat RA","year":"2008","journal-title":"Neurology"},{"key":"CIT0024","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng0495-347","volume":"9","author":"Collins FS","year":"1995","journal-title":"Nat Genet"},{"key":"CIT0025","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/pd.1970150503","volume":"15","author":"Wirth B","year":"1995","journal-title":"Prenat Diagn"},{"key":"CIT0026","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/0888-7543(90)90205-9","volume":"7","author":"Abbs S","year":"1990","journal-title":"Genomics"},{"key":"CIT0027","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S0140-6736(85)91325-X","volume":"1","author":"Bakker E","year":"1985","journal-title":"Lancet"},{"key":"CIT0028","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/BF00283362","volume":"71","author":"Dorkins H","year":"1985","journal-title":"Hum Genet"},{"key":"CIT0029","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90504-6"},{"key":"CIT0030","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1038\/316842a0","volume":"316","author":"Monaco AP","year":"1985","journal-title":"Nature"},{"key":"CIT0031","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1136\/jmg.23.6.573","volume":"23","author":"Bakker E","year":"1986","journal-title":"J Med Genet"},{"key":"CIT0032","doi-asserted-by":"publisher","DOI":"10.1038\/322073a0"},{"key":"CIT0033","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90113-9"},{"key":"CIT0034","doi-asserted-by":"crossref","first-page":"270","DOI":"10.5694\/j.1326-5377.1990.tb120926.x","volume":"152","author":"Laing NG","year":"1990","journal-title":"Med J Aust"},{"key":"CIT0035","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205170"},{"key":"CIT0036","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ajmg.1320570107","volume":"57","author":"Prior TW","year":"1995","journal-title":"Am J Hum Genet"},{"key":"CIT0037","doi-asserted-by":"publisher","DOI":"10.1086\/374176"},{"key":"CIT0038","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","volume":"352","author":"La Spada AR","year":"1991","journal-title":"Nature"},{"key":"CIT0039","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","volume":"66","author":"Lupski JR","year":"1991","journal-title":"Cell"},{"key":"CIT0040","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0092-8674(93)90058-X","volume":"72","author":"Chance PF","year":"1993","journal-title":"Cell"},{"key":"CIT0041","first-page":"10","volume":"51","author":"Harper PS","year":"1992","journal-title":"Am J Hum Genet"},{"key":"CIT0042","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/355548a0","volume":"355","author":"Aslanidis C","year":"1992","journal-title":"Nature"},{"key":"CIT0043","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","volume":"68","author":"Brook JD","year":"1992","journal-title":"Cell"},{"key":"CIT0044","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/355547a0","volume":"355","author":"Buxton J","year":"1992","journal-title":"Nature"},{"key":"CIT0045","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ng0692-192","volume":"1","author":"Tsilfidis C","year":"1992","journal-title":"Nat Genet"},{"key":"CIT0046","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"Lefebvre S","year":"1995","journal-title":"Cell"},{"key":"CIT0047","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","volume":"61","author":"Campbell L","year":"1997","journal-title":"Am J Hum Genet"},{"key":"CIT0048","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/343558a0","volume":"343","author":"Jadayel D","year":"1990","journal-title":"Nature"},{"key":"CIT0049","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/humu.1380050110","volume":"5","author":"Valentijn LJ","year":"1995","journal-title":"Hum Mutat"},{"key":"CIT0050","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<304::AID-HUMU2>3.0.CO;2-7","volume":"8","author":"Silander K","year":"1996","journal-title":"Hum Mutat"},{"key":"CIT0051","doi-asserted-by":"crossref","first-page":"2664","DOI":"10.1093\/brain\/awr184","volume":"134","author":"Baets J","year":"2011","journal-title":"Brain"},{"key":"CIT0052","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/13837","volume":"23","author":"Nowak KJ","year":"1999","journal-title":"Nat Genet"},{"key":"CIT0053","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1002\/humu.21059","volume":"30","author":"Laing NG","year":"2009","journal-title":"Hum Mutat"},{"key":"CIT0054","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0960-8966(96)00354-9","volume":"6","author":"Wallgren-Pettersson C","year":"1996","journal-title":"Neuromuscul Disord"},{"key":"CIT0055","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1086\/424760","volume":"75","author":"Meredith C","year":"2004","journal-title":"Am J Hum Genet"},{"key":"CIT0056","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1007\/s00415-011-5900-9","volume":"258","author":"Dubourg O","year":"2011","journal-title":"J Neurol"},{"key":"CIT0057","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0072-9752(07)86001-5","volume-title":"Myopathies","author":"Laing NG","year":"2007","edition":"3"},{"key":"CIT0058","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jmg.27.1.8","volume":"27","author":"Brock DJ","year":"1990","journal-title":"J Med Genet"},{"key":"CIT0059","first-page":"83","volume":"60","author":"Kelly KF","year":"2002","journal-title":"Health Bull (Edinb)"},{"key":"CIT0060","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","volume":"69","author":"Saporta AS","year":"2011","journal-title":"Ann Neurol"},{"key":"CIT0061","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2005.10.001","volume":"16","author":"von der Hagen M","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"CIT0062","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1017\/CBO9780511674747.017","volume-title":"Disorders of Voluntary Muscle","author":"Wallgren-Pettersson C","year":"2010","edition":"8"},{"key":"CIT0063","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.nmd.2010.04.005","volume":"20","author":"Abbs S","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"CIT0064","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/WCO.0b013e32830f93c7","volume":"21","author":"Sewry CA","year":"2008","journal-title":"Curr Opin Neurol"},{"key":"CIT0065","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","volume":"107","author":"Richard P","year":"2003","journal-title":"Circulation"},{"key":"CIT0066","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/eurheartj\/ehi193","volume":"26","author":"Villard E","year":"2005","journal-title":"Eur Heart J"},{"key":"CIT0067","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1002\/ana.10693","volume":"54","author":"Tajsharghi H","year":"2003","journal-title":"Ann Neurol"},{"key":"CIT0068","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1212\/01.wnl.0000257131.13438.2c","volume":"68","author":"Tajsharghi H","year":"2007","journal-title":"Neurology"},{"key":"CIT0069","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.nmd.2007.01.010","volume":"17","author":"Pegoraro E","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"CIT0070","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1212\/WNL.0b013e3181eee4d5","volume":"75","author":"Muelas N","year":"2010","journal-title":"Neurology"},{"key":"CIT0071","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.nmd.2010.12.011","volume":"21","author":"Ortolano S","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"CIT0072","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.nmd.2010.12.005","volume":"21","author":"Homayoun H","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"CIT0073","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/ng0993-46","volume":"5","author":"Zhang Y","year":"1993","journal-title":"Nat Genet"},{"key":"CIT0074","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0993-51","volume":"5","author":"Quane KA","year":"1993","journal-title":"Nat Genet"},{"key":"CIT0075","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1093\/hmg\/9.18.2599","volume":"9","author":"Monnier N","year":"2000","journal-title":"Hum Mol Genet"},{"key":"CIT0076","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1212\/WNL.55.11.1689","volume":"55","author":"Scacheri PC","year":"2000","journal-title":"Neurology"},{"key":"CIT0077","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/S0960-8966(02)00135-9","volume":"12","author":"Sewry CA","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"CIT0078","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1212\/01.wnl.0000269792.63927.86","volume":"70","author":"Sato I","year":"2008","journal-title":"Neurology"},{"key":"CIT0079","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/ana.10231","volume":"51","author":"Ferreiro A","year":"2002","journal-title":"Ann Neurol"},{"key":"CIT0080","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1212\/WNL.59.2.284","volume":"59","author":"Jungbluth H","year":"2002","journal-title":"Neurology"},{"key":"CIT0081","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1093\/bja\/88.4.508","volume":"88","author":"Davis M","year":"2002","journal-title":"Br J Anaesth"},{"key":"CIT0082","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2005.06.012","volume":"15","author":"Jungbluth H","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"CIT0083","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188870.37076.f2"},{"key":"CIT0084","doi-asserted-by":"crossref","first-page":"E1544","DOI":"10.1002\/humu.21278","volume":"31","author":"Clarke NF","year":"2010","journal-title":"Hum Mutat"},{"key":"CIT0085","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/mus.20092","volume":"30","author":"Fee DB","year":"2004","journal-title":"Muscle Nerve"},{"key":"CIT0086","doi-asserted-by":"publisher","DOI":"10.1086\/342380"},{"key":"CIT0087","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1006\/bbrc.1999.1221","volume":"262","author":"Satoh M","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"CIT0088","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng815","volume":"30","author":"Gerull B","year":"2002","journal-title":"Nat Genet"},{"key":"CIT0089","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1126\/science.1110463","volume":"308","author":"Lange S","year":"2005","journal-title":"Science"},{"key":"CIT0090","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.21089","volume":"61","author":"Carmignac V","year":"2007","journal-title":"Ann Neurol"},{"key":"CIT0091","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1038\/sj.ejhg.5201242","volume":"12","author":"Donner K","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"CIT0092","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1073\/pnas.96.5.2305","volume":"96","author":"Pelin K","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"CIT0093","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1002\/humu.20370","volume":"27","author":"Lehtokari VL","year":"2006","journal-title":"Hum Mutat"},{"key":"CIT0094","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1002\/humu.20356","volume":"27","author":"Robinson R","year":"2006","journal-title":"Hum Mutat"},{"key":"CIT0095","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(02)00218-3","volume":"13","author":"Davis MR","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"CIT0096","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1093\/brain\/awl077","volume":"129","author":"Wu S","year":"2006","journal-title":"Brain"},{"key":"CIT0097","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","volume":"467","author":"Consortium* TGP","year":"2010","journal-title":"Nature"},{"key":"CIT0098","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/WNL.0b013e3181ec7fbd","volume":"75","author":"Kono S","year":"2010","journal-title":"Neurology"},{"key":"CIT0099","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1515\/CCLM.2010.272","volume":"48","author":"Odgerel Z","year":"2010","journal-title":"Clin Chem Lab Med"},{"key":"CIT0100","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","volume":"10","author":"Sunyaev S","year":"2001","journal-title":"Hum Mol Genet"},{"key":"CIT0101","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"Ng PC","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"CIT0102","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","volume":"185","author":"Grantham R","year":"1974","journal-title":"Science"},{"key":"CIT0103","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1002\/ajmg.a.33433","volume":"152","author":"Tabet AC","year":"2010","journal-title":"Am J Med Genet A"},{"key":"CIT0104","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/humu.20829","volume":"29","author":"Saillour Y","year":"2008","journal-title":"Hum Mutat"},{"key":"CIT0105","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ng0794-350","volume":"7","author":"Cheng S","year":"1994","journal-title":"Nat Genet"},{"key":"CIT0106","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"CIT0107","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.12.1022"},{"key":"CIT0108","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1089\/gtmb.2010.0127","volume":"15","author":"Radvansky J","year":"2011","journal-title":"Genet Test Mol Biomarkers"},{"key":"CIT0109","doi-asserted-by":"crossref","first-page":"601","DOI":"10.2353\/jmoldx.2010.090239","volume":"12","author":"Catalli C","year":"2010","journal-title":"J Mol Diagn"},{"key":"CIT0110","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","volume":"72","author":"DeJesus-Hernandez M","year":"2011","journal-title":"Neuron"},{"key":"CIT0111","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","volume":"72","author":"Renton AE","year":"2011","journal-title":"Neuron"},{"key":"CIT0112","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","volume":"345","author":"van der Steege G","year":"1995","journal-title":"Lancet"},{"key":"CIT0113","doi-asserted-by":"crossref","first-page":"e1000353","DOI":"10.1371\/journal.pgen.1000353","volume":"5","author":"Hildebrandt F","year":"2009","journal-title":"PLoS Genet"},{"key":"CIT0114","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"Orita M","year":"1989","journal-title":"Genomics"},{"key":"CIT0115","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1086\/426035","volume":"75","author":"Lemmers RJ","year":"2004","journal-title":"Am J Hum Genet"},{"key":"CIT0116","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrg2626","volume":"11","author":"Metzker ML","year":"2010","journal-title":"Nat Rev Genet"},{"key":"CIT0117","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21293"},{"key":"CIT0118","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1038\/nbt.1975","volume":"29","author":"Clark MJ","year":"2011","journal-title":"Nat Biotechnol"},{"key":"CIT0119","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","volume":"68","author":"Johnson JO","year":"2010","journal-title":"Neuron"},{"key":"CIT0120","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"CIT0121","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.002"},{"key":"CIT0122","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1056\/NEJMoa0908094","volume":"362","author":"Lupski JR","year":"2010","journal-title":"N Engl J Med"},{"key":"CIT0123","doi-asserted-by":"publisher","DOI":"10.1086\/510402"},{"key":"CIT0124","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2011.06.941","volume":"21","author":"Ockeloen CM","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"CIT0125","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/ana.22235","volume":"69","author":"Montenegro G","year":"2011","journal-title":"Ann Neurol"},{"key":"CIT0126","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21221"},{"key":"CIT0127","doi-asserted-by":"crossref","first-page":"12629","DOI":"10.1073\/pnas.1007983107","volume":"107","author":"Walsh T","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"CIT0128","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2010.083568","volume":"48","author":"Simpson DA","year":"2011","journal-title":"J Med Genet"},{"key":"CIT0129","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nature08250","volume":"461","author":"Ng SB","year":"2009","journal-title":"Nature"},{"key":"CIT0130","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/bmj.306.6874.357","volume":"306","author":"Bradley DM","year":"1993","journal-title":"BMJ"},{"key":"CIT0131","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1001\/archneur.1988.00520250090026","volume":"45","author":"Roses AD","year":"1988","journal-title":"Arch Neurol"},{"key":"CIT0132","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s10974-008-9158-5","volume":"29","author":"Laing NG","year":"2008","journal-title":"J Muscle Res Cell Motil"},{"key":"CIT0133","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00439-009-0669-y","volume":"126","author":"Zlotogora J","year":"2009","journal-title":"Hum Genet"},{"key":"CIT0134","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0065-2660(01)44084-3","volume":"44","author":"Kaback MM","year":"2001","journal-title":"Adv Genet"},{"key":"CIT0135","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"},{"key":"CIT0136","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1093\/hmg\/ddn029","volume":"17","author":"Bartoli M","year":"2008","journal-title":"Hum Mol Genet"},{"key":"CIT0137","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1093\/hmg\/ddq515","volume":"20","author":"Castets P","year":"2011","journal-title":"Hum Mol Genet"},{"key":"CIT0138","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","volume":"362","author":"Rosen DR","year":"1993","journal-title":"Nature"},{"key":"CIT0139","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1097\/WCO.0b013e32834a9589","volume":"24","author":"Dalakas MC","year":"2011","journal-title":"Curr Opin Neurol"},{"key":"CIT0140","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60756-3"},{"key":"CIT0141","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ana.21035","volume":"61","author":"Nowak KJ","year":"2007","journal-title":"Ann Neurol"},{"key":"CIT0142","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/S0140-6736(94)92913-0","volume":"344","author":"Suthers G","year":"1994","journal-title":"Lancet"}],"container-title":["Critical Reviews in Clinical Laboratory Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.tandfonline.com\/doi\/pdf\/10.3109\/10408363.2012.658906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T05:58:50Z","timestamp":1593928730000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.tandfonline.com\/doi\/full\/10.3109\/10408363.2012.658906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":141,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,4,2]]},"published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.3109\/10408363.2012.658906"],"URL":"https:\/\/doi.org\/10.3109\/10408363.2012.658906","relation":{},"ISSN":["1040-8363","1549-781X"],"issn-type":[{"value":"1040-8363","type":"print"},{"value":"1549-781X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4]]}}}