{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T15:20:22Z","timestamp":1783005622198,"version":"3.54.5"},"reference-count":55,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2021M703638"],"award-info":[{"award-number":["2021M703638"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34\u2009years were enrolled who exhibited initial symptoms. Physical examinations revealed that all patients exhibited muscle weakness. Muscle biopsies demonstrated multiple myopathological changes, including increased fibre size variation, myofibrillar network disarray, necrosis, myofiber grouping, regeneration, fibre atrophy and angular fibres. Genetic testing revealed six different mutated genes, including AGRN (2\/9), CHRNE (1\/9), GFPT1 (1\/9), GMPPB (1\/9), PLEC (3\/9) and SCN4A (1\/9). In addition, patients exhibited differential responses to pharmacological treatment. Prompt utilization of genetic testing will identify novel variants and expand our understanding of the phenotype of this rare syndrome. Our findings contribute to the clinical, pathohistological and genetic spectrum of congenital myasthenic syndrome in China.<\/jats:p>","DOI":"10.1111\/jcmm.17417","type":"journal-article","created":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T06:41:11Z","timestamp":1654584071000},"page":"3828-3836","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinicopathological\u2010genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1470-5071","authenticated-orcid":false,"given":"Kun","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"},{"name":"Institute of Molecular Precision Medicine and Hunan Key Laboratory of Molecular Precision Medicine, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui\u2010Qian","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu\u2010Xiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue\u2010Bei","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang\u2010Fang","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.177816"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.08.003"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304788"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2019.01.004"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.02.002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22130"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1025-5"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.2174\/1570159X18666200729092332"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.5590"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000167132.35865.31"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.04.022"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51346"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12761"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.16978"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00516"},{"issue":"8","key":"e_1_2_9_18_1","first-page":"3984","article-title":"Comparative immunoprofiling of polymyositis and dermatomyositis muscles","volume":"11","author":"Huang K","year":"2018","journal-title":"Int J Clin Exp Patho"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2020.00154"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-59517-y"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00681-2"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12667"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.008"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578-1310.2016.05.016"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.013"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-018-0852-4"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64076-5.00037-5"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22052455"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0959-4388(92)90168-k"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.039420"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.112.8.1213"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(00)80388-3"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.7774-21"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00239"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu160"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.132023"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.05.001"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy225"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.009"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv185"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.03.004"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2007.123653"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00604.2008"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1539"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01602.x"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.6309"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26703"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.014"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24389"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002264"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007185"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073820987755"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-05021-0"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.009"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.08.362"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2012.08.013"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.17417","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcmm.17417","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.17417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T12:05:44Z","timestamp":1692792344000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.17417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,6]]},"references-count":55,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/jcmm.17417"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.17417","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,6]]},"assertion":[{"value":"2021-12-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}