{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T21:45:09Z","timestamp":1759009509097},"reference-count":277,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,2,9]],"date-time":"2005-02-09T00:00:00Z","timestamp":1107907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Molecular genetic advances have led to refinements in the classification of inherited neuromuscular disease, and to methods of molecular testing useful for diagnosis and management of selected patients. Testing should be performed as targeted studies, sometimes sequentially, but not as wasteful panels of multiple genetic tests performed simultaneously. Accurate diagnosis through molecular testing is available for the vast majority of patients with inherited neuropathies, resulting from mutations in three genes (<jats:italic>PMP22<\/jats:italic>, <jats:italic>MPZ<\/jats:italic>, and <jats:italic>GJB1<\/jats:italic>); the most common types of muscular dystrophies (Duchenne and Becker, facioscapulohumeral, and myotonic dystrophies); the inherited motor neuron disorders (spinal muscular atrophy, Kennedy's disease, and <jats:italic>SOD1<\/jats:italic> related amyotrophic lateral sclerosis); and many other neuromuscular disorders. The role of potential multiple genetic influences on the development of acquired neuromuscular diseases is an increasingly active area of research. Muscle Nerve, 2005<\/jats:p>","DOI":"10.1002\/mus.20279","type":"journal-article","created":{"date-parts":[[2005,2,10]],"date-time":"2005-02-10T02:37:52Z","timestamp":1108003072000},"page":"431-451","source":"Crossref","is-referenced-by-count":15,"title":["Molecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease"],"prefix":"10.1002","volume":"31","author":[{"given":"Steven A.","family":"Greenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronan J.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,2,9]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.01.007"},{"key":"e_1_2_8_3_2","unstructured":"AlfredI. duPont Hospital for Children Molecular Diagnostics Lab Wilmington DE. Contact:igonzale@nemours.org."},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.4.791"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00093-2"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00143-7"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199909303411404"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.9.1491"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.10.1877"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-817722"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/329554a0"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.3.405"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.4.465"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng796"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205170"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/85817"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1801"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20094"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00169-X"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00863770"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-323"},{"key":"e_1_2_8_22_2","first-page":"388","article-title":"Evidence for linkage of Charcot\u2010Marie\u2010Tooth neuropathy to the Duffy locus on chromosome 1","volume":"34","author":"Bird TD","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140612"},{"key":"e_1_2_8_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10089"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123255.92062.37"},{"key":"e_1_2_8_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/75542"},{"key":"e_1_2_8_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480000101"},{"key":"e_1_2_8_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/6799"},{"key":"e_1_2_8_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J"},{"key":"e_1_2_8_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050442"},{"key":"e_1_2_8_31_2","doi-asserted-by":"publisher","DOI":"10.1159\/000072861"},{"key":"e_1_2_8_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-164"},{"key":"e_1_2_8_33_2","doi-asserted-by":"publisher","DOI":"10.1086\/302775"},{"key":"e_1_2_8_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.25.2851"},{"key":"e_1_2_8_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_8_36_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9211"},{"key":"e_1_2_8_37_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000101676.41505.A7"},{"key":"e_1_2_8_38_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.9.1932"},{"key":"e_1_2_8_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00207-8"},{"key":"e_1_2_8_40_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.109"},{"key":"e_1_2_8_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature02623"},{"key":"e_1_2_8_42_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9261"},{"key":"e_1_2_8_43_2","doi-asserted-by":"publisher","DOI":"10.2174\/0929867043456151"},{"key":"e_1_2_8_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200210"},{"key":"e_1_2_8_45_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197714"},{"key":"e_1_2_8_46_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200010)23:10<1456::AID-MUS2>3.0.CO;2-T"},{"key":"e_1_2_8_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng798"},{"key":"e_1_2_8_48_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003163421104"},{"key":"e_1_2_8_49_2","doi-asserted-by":"publisher","DOI":"10.1038\/329556a0"},{"key":"e_1_2_8_50_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290341"},{"key":"e_1_2_8_51_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200310000-00001"},{"key":"e_1_2_8_52_2","doi-asserted-by":"publisher","DOI":"10.1038\/85879"},{"key":"e_1_2_8_53_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000054481.84978.F9"},{"key":"e_1_2_8_54_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A"},{"key":"e_1_2_8_55_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201066"},{"key":"e_1_2_8_56_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A"},{"key":"e_1_2_8_57_2","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90002-P"},{"key":"e_1_2_8_58_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.361"},{"key":"e_1_2_8_59_2","first-page":"835","article-title":"Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications","volume":"45","author":"Den Dunnen JT","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_60_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.1103"},{"key":"e_1_2_8_61_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"e_1_2_8_62_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00069-X"},{"key":"e_1_2_8_63_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00838159"},{"key":"e_1_2_8_64_2","unstructured":"Duke University Medical Center Glycogen Storage Disease Laboratory. Available at:http:\/\/www.duke.edu\/\u223cmdfeezor\/dukemedicalgenetics\/."},{"key":"e_1_2_8_65_2","first-page":"825","volume-title":"Peripheral neuropathy","author":"Dyck PJ","year":"1975"},{"key":"e_1_2_8_66_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1968.00470360025002"},{"key":"e_1_2_8_67_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1968.00470360041003"},{"key":"e_1_2_8_68_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300610"},{"key":"e_1_2_8_69_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1088679"},{"key":"e_1_2_8_70_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng718"},{"key":"e_1_2_8_71_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<681::AID-ANA1>3.0.CO;2-B"},{"key":"e_1_2_8_72_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.2.163"},{"key":"e_1_2_8_73_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10269"},{"key":"e_1_2_8_74_2","first-page":"1801","volume-title":"Myology","author":"Engel AG","year":"2004"},{"key":"e_1_2_8_75_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_8_76_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20058"},{"key":"e_1_2_8_77_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199912023412302"},{"key":"e_1_2_8_78_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20092"},{"key":"e_1_2_8_79_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00237-1"},{"key":"e_1_2_8_80_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10231"},{"key":"e_1_2_8_81_2","doi-asserted-by":"publisher","DOI":"10.1086\/342719"},{"key":"e_1_2_8_82_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20077"},{"key":"e_1_2_8_83_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050671"},{"key":"e_1_2_8_84_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.8.1045"},{"key":"e_1_2_8_85_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10442"},{"key":"e_1_2_8_86_2","doi-asserted-by":"publisher","DOI":"10.1086\/374176"},{"key":"e_1_2_8_87_2","doi-asserted-by":"publisher","DOI":"10.1086\/339083"},{"key":"e_1_2_8_88_2","unstructured":"GeneTests. Available at:http:\/\/www.genetests.org\/."},{"key":"e_1_2_8_89_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9"},{"key":"e_1_2_8_90_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150070151"},{"key":"e_1_2_8_91_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200405000-00008"},{"key":"e_1_2_8_92_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10322"},{"key":"e_1_2_8_93_2","doi-asserted-by":"publisher","DOI":"10.1038\/1300"},{"key":"e_1_2_8_94_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.5.755"},{"key":"e_1_2_8_95_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.8.1170"},{"key":"e_1_2_8_96_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.415"},{"key":"e_1_2_8_97_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.1.106"},{"key":"e_1_2_8_98_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<182::AID-MUS6>3.0.CO;2-W"},{"key":"e_1_2_8_99_2","doi-asserted-by":"publisher","DOI":"10.1086\/342380"},{"key":"e_1_2_8_100_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.869"},{"key":"e_1_2_8_101_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"e_1_2_8_102_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.259"},{"key":"e_1_2_8_103_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90177-X"},{"key":"e_1_2_8_104_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201087"},{"key":"e_1_2_8_105_2","first-page":"1164","article-title":"Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy","volume":"52","author":"Harley HG","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_106_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg012"},{"key":"e_1_2_8_107_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.14.2141"},{"key":"e_1_2_8_108_2","doi-asserted-by":"publisher","DOI":"10.1086\/344532"},{"key":"e_1_2_8_109_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-94"},{"key":"e_1_2_8_110_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1349"},{"key":"e_1_2_8_111_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.3.522"},{"key":"e_1_2_8_112_2","first-page":"217","article-title":"Metabolic myopathies","volume":"88","author":"Hirano M","year":"2002","journal-title":"Adv Neurol"},{"key":"e_1_2_8_113_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198805263182104"},{"key":"e_1_2_8_114_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)10028-4"},{"key":"e_1_2_8_115_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.5.907"},{"key":"e_1_2_8_116_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.002"},{"key":"e_1_2_8_117_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9101"},{"key":"e_1_2_8_118_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.4.431"},{"key":"e_1_2_8_119_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10240"},{"key":"e_1_2_8_120_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(98)00012-6"},{"key":"e_1_2_8_121_2","unstructured":"Inherited Peripheral Neuropathies Mutation Database. Available at:http:\/\/www.molgen.ua.ac.be\/CMTMutations\/default.cfm."},{"key":"e_1_2_8_122_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.6.1218"},{"key":"e_1_2_8_123_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.12.1048"},{"key":"e_1_2_8_124_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1377"},{"key":"e_1_2_8_125_2","doi-asserted-by":"publisher","DOI":"10.1258\/000456303321016114"},{"key":"e_1_2_8_126_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20007"},{"key":"e_1_2_8_127_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg059"},{"key":"e_1_2_8_128_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000119392.29624.88"},{"key":"e_1_2_8_129_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.9.1806"},{"key":"e_1_2_8_130_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2664"},{"key":"e_1_2_8_131_2","doi-asserted-by":"publisher","DOI":"10.1086\/302978"},{"key":"e_1_2_8_132_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.5.644"},{"key":"e_1_2_8_133_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1"},{"key":"e_1_2_8_134_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200029"},{"key":"e_1_2_8_135_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490300312"},{"key":"e_1_2_8_136_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00207-3"},{"key":"e_1_2_8_137_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(01)00016-0"},{"key":"e_1_2_8_138_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1379744"},{"key":"e_1_2_8_139_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200308000-00010"},{"key":"e_1_2_8_140_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb08596.x"},{"key":"e_1_2_8_141_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2003.00110.x"},{"key":"e_1_2_8_142_2","doi-asserted-by":"publisher","DOI":"10.1038\/352077a0"},{"key":"e_1_2_8_143_2","doi-asserted-by":"publisher","DOI":"10.1086\/420795"},{"key":"e_1_2_8_144_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2004.00555.x"},{"key":"e_1_2_8_145_2","first-page":"875","article-title":"Myotonic dystrophy: size\u2010 and sex\u2010dependent dynamics of CTG meiotic instability, and somatic mosaicism","volume":"52","author":"Lavedan C","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_146_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370206"},{"key":"e_1_2_8_147_2","first-page":"1257","volume-title":"Myology","author":"Lehmann\u2010Horn F","year":"2004"},{"key":"e_1_2_8_148_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000078889.51444.81"},{"key":"e_1_2_8_149_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20106"},{"key":"e_1_2_8_150_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10057"},{"key":"e_1_2_8_151_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.8.1451"},{"key":"e_1_2_8_152_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051074"},{"key":"e_1_2_8_153_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<147::AID-MUS1>3.0.CO;2-#"},{"key":"e_1_2_8_154_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb08622.x"},{"key":"e_1_2_8_155_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.6.592"},{"key":"e_1_2_8_156_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#"},{"key":"e_1_2_8_157_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"e_1_2_8_158_2","doi-asserted-by":"publisher","DOI":"10.1038\/1682"},{"key":"e_1_2_8_159_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg307"},{"key":"e_1_2_8_160_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200656"},{"key":"e_1_2_8_161_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_8_162_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10763"},{"key":"e_1_2_8_163_2","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwg077"},{"key":"e_1_2_8_164_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-6147(03)00050-6"},{"key":"e_1_2_8_165_2","doi-asserted-by":"publisher","DOI":"10.1086\/302375"},{"key":"e_1_2_8_166_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.2.281"},{"key":"e_1_2_8_167_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<684::AID-ANA2>3.0.CO;2-#"},{"key":"e_1_2_8_168_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.4.645"},{"key":"e_1_2_8_169_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10559"},{"key":"e_1_2_8_170_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.5.690"},{"key":"e_1_2_8_171_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y"},{"key":"e_1_2_8_172_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-365"},{"key":"e_1_2_8_173_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.3.608"},{"key":"e_1_2_8_174_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng713"},{"key":"e_1_2_8_175_2","doi-asserted-by":"publisher","DOI":"10.1038\/72822"},{"key":"e_1_2_8_176_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.e12"},{"key":"e_1_2_8_177_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1147"},{"key":"e_1_2_8_178_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1453"},{"key":"e_1_2_8_179_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200101)24:1<120::AID-MUS17>3.0.CO;2-0"},{"key":"e_1_2_8_180_2","doi-asserted-by":"publisher","DOI":"10.1016\/1090-3798(98)01001-9"},{"key":"e_1_2_8_181_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)11397-3"},{"key":"e_1_2_8_182_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.849"},{"key":"e_1_2_8_183_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00282-3"},{"key":"e_1_2_8_184_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00104-2"},{"key":"e_1_2_8_185_2","doi-asserted-by":"publisher","DOI":"10.1159\/000472166"},{"key":"e_1_2_8_186_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000036272.36047.54"},{"key":"e_1_2_8_187_2","doi-asserted-by":"publisher","DOI":"10.1086\/302281"},{"key":"e_1_2_8_188_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210746"},{"key":"e_1_2_8_189_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10134"},{"key":"e_1_2_8_190_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2004.01.007"},{"key":"e_1_2_8_191_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.6.823"},{"key":"e_1_2_8_192_2","unstructured":"Online Mendelian Inheritance in Man (OMIM) database. Available at:http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?db=OMIM."},{"key":"e_1_2_8_193_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.19.2879"},{"key":"e_1_2_8_194_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000073984.46546.4F"},{"key":"e_1_2_8_195_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0"},{"key":"e_1_2_8_196_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.101"},{"key":"e_1_2_8_197_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61162-5"},{"key":"e_1_2_8_198_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn847"},{"key":"e_1_2_8_199_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_2_8_200_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00154-1"},{"key":"e_1_2_8_201_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00197-8"},{"key":"e_1_2_8_202_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90135-X"},{"key":"e_1_2_8_203_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10063"},{"key":"e_1_2_8_204_2","doi-asserted-by":"publisher","DOI":"10.1086\/302869"},{"key":"e_1_2_8_205_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00076-3"},{"key":"e_1_2_8_206_2","doi-asserted-by":"publisher","DOI":"10.1086\/383590"},{"key":"e_1_2_8_207_2","first-page":"333","article-title":"Mosaicism for Charcot\u2010Marie\u2010Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages","volume":"1","author":"Rautenstrauss B","year":"1998","journal-title":"Int J Mol Med"},{"key":"e_1_2_8_208_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10190"},{"key":"e_1_2_8_209_2","first-page":"1128","article-title":"Multiple independent molecular etiology for limb\u2010girdle muscular dystrophy type 2A patients from various geographical origins","volume":"60","author":"Richard I","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_210_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.8.1448"},{"key":"e_1_2_8_211_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-269"},{"key":"e_1_2_8_212_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199307083290205"},{"key":"e_1_2_8_213_2","unstructured":"Robert Guthrie Biochemical Genetics Laboratory Women's and Children's Hospital of Buffalo. Available at:http:\/\/www.rgbgl.org\/research\/mutations.htm#myo."},{"key":"e_1_2_8_214_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200964"},{"key":"e_1_2_8_215_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90083-V"},{"key":"e_1_2_8_216_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00192-4"},{"key":"e_1_2_8_217_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000052788.39340.45"},{"key":"e_1_2_8_218_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1080"},{"key":"e_1_2_8_219_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4914(01)02089-5"},{"key":"e_1_2_8_220_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420306"},{"key":"e_1_2_8_221_2","first-page":"396","article-title":"Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium","volume":"51","author":"Sarfarazi M","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_222_2","doi-asserted-by":"publisher","DOI":"10.1086\/421528"},{"key":"e_1_2_8_223_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.11.1689"},{"key":"e_1_2_8_224_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200667"},{"key":"e_1_2_8_225_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10767"},{"key":"e_1_2_8_226_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123576.74801.75"},{"key":"e_1_2_8_227_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh052"},{"key":"e_1_2_8_228_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg068"},{"key":"e_1_2_8_229_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh048"},{"key":"e_1_2_8_230_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050522"},{"key":"e_1_2_8_231_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A"},{"key":"e_1_2_8_232_2","doi-asserted-by":"publisher","DOI":"10.1086\/302252"},{"key":"e_1_2_8_233_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R"},{"key":"e_1_2_8_234_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.60.1.22"},{"key":"e_1_2_8_235_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6"},{"key":"e_1_2_8_236_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10693"},{"key":"e_1_2_8_237_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01883321"},{"key":"e_1_2_8_238_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000068333.43005.12"},{"key":"e_1_2_8_239_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10213"},{"key":"e_1_2_8_240_2","doi-asserted-by":"publisher","DOI":"10.1086\/302578"},{"key":"e_1_2_8_241_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.004"},{"key":"e_1_2_8_242_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00029-9"},{"key":"e_1_2_8_243_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10157"},{"key":"e_1_2_8_244_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.37.1.68"},{"key":"e_1_2_8_245_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350305"},{"key":"e_1_2_8_246_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.5.1311"},{"key":"e_1_2_8_247_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360418"},{"key":"e_1_2_8_248_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00092-0"},{"key":"e_1_2_8_249_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.476"},{"key":"e_1_2_8_250_2","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/86.2.283"},{"key":"e_1_2_8_251_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/119.5.1471"},{"key":"e_1_2_8_252_2","doi-asserted-by":"publisher","DOI":"10.1086\/302730"},{"key":"e_1_2_8_253_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9138"},{"key":"e_1_2_8_254_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6690"},{"key":"e_1_2_8_255_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1262"},{"key":"e_1_2_8_256_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.5.638"},{"key":"e_1_2_8_257_2","doi-asserted-by":"publisher","DOI":"10.1038\/1765"},{"key":"e_1_2_8_258_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(05)70179-1"},{"key":"e_1_2_8_259_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10104"},{"key":"e_1_2_8_260_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.03.006"},{"key":"e_1_2_8_261_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0234-x"},{"key":"e_1_2_8_262_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02367.x"},{"key":"e_1_2_8_263_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0647-5"},{"key":"e_1_2_8_264_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.11.1983"},{"key":"e_1_2_8_265_2","doi-asserted-by":"publisher","DOI":"10.1053\/spen.2002.33806"},{"key":"e_1_2_8_266_2","doi-asserted-by":"publisher","DOI":"10.1086\/341942"},{"key":"e_1_2_8_267_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(99)01708-0"},{"key":"e_1_2_8_268_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1313"},{"key":"e_1_2_8_269_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_8_270_2","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_8_271_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.7.1241"},{"key":"e_1_2_8_272_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2003.12.010"},{"key":"e_1_2_8_273_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00121-7"},{"key":"e_1_2_8_274_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5"},{"key":"e_1_2_8_275_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-46"},{"key":"e_1_2_8_276_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00363-4"},{"key":"e_1_2_8_277_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg074"},{"key":"e_1_2_8_278_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1341"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.20279","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.20279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T00:11:05Z","timestamp":1700179865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.20279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,9]]},"references-count":277,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1002\/mus.20279"],"URL":"https:\/\/doi.org\/10.1002\/mus.20279","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,9]]}}}