{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:13:18Z","timestamp":1777857198518,"version":"3.51.4"},"reference-count":59,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Myofibrillar myopathy (MFM) is a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk and disintegration of myofibrils. OBJECTIVE: We aimed to analyze the mutational spectrum and phenotypic features of MFM in China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We used targeted next generation sequencing (NGS) to identify causative mutations in 39 MFM patients with confirmed myopathological diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The results showed that variants were found in six MFM-associated genes, including\n                      <jats:italic>DES, FLNC, BAG3, MYOT, TTN<\/jats:italic>\n                      and\n                      <jats:italic>DNAJB6,<\/jats:italic>\n                      in 28 (71.7%), 3 (7.7%), 3 (7.7%), 1 (2.6%), 3 (7.7%), and 1 (2.6%), respectively. Of the total 26 variants identified, 19 were reported previously and 7 were novel variants. Missense variant (80.0%) was the most common mutant type of\n                      <jats:italic>DES<\/jats:italic>\n                      . P209L was the hotspot mutation of\n                      <jats:italic>BAG3<\/jats:italic>\n                      while no obvious hotspot mutation was found of\n                      <jats:italic>DES<\/jats:italic>\n                      . Clinically, distal and proximal weakness were observed in 64.1% and 35.9% patients. Arrythmia and peripheral neuropathy were the most common combined symptoms of desminopathy and BAG3opathy, respectively. Pathologically, rimmed vacuoles (RVs) were present in different genetic type of MFM. Giant axonal nerve fiber was found in\n                      <jats:italic>BAG3<\/jats:italic>\n                      -releated MFM patient.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conlusion:<\/jats:title>\n                    <jats:p>\n                      We concluded that MFM showed a highly variable genetic spectrum, with\n                      <jats:italic>DES<\/jats:italic>\n                      as the most frequent causative gene followed by\n                      <jats:italic>FLNC, BAG3<\/jats:italic>\n                      and\n                      <jats:italic>TTN<\/jats:italic>\n                      . This study expanded the genotypic and phenotypic spectrum of MFM among Chinese cohort.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241289220","type":"journal-article","created":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T16:44:26Z","timestamp":1733676266000},"page":"1247-1259","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Mutational and clinical spectrum of myofibrillar myopathy in one center from China"],"prefix":"10.1177","volume":"11","author":[{"given":"Qi","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"},{"name":"Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiying","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaxi","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiujuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"He","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianwen","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"},{"name":"Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"},{"name":"Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"},{"name":"Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,12,8]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh052"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1057-6"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00011-6"},{"key":"e_1_3_4_5_2","volume-title":"GeneReviews((R))","author":"Selcen D","year":"1993","unstructured":"Selcen D, Engel AG, et al. Myofibrillar myopathy - retired chapter, for historical reference only. In: Adam MP, Everman DB, Mirzaa GM (eds) GeneReviews((R)). Seattle (WA: University of Washington), 1993, pp. 3\u20137."},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01512.x"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.11.004"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0463-4"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304728"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-01046-w"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823a0ebe"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-016-0314-7"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.04.002"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002324"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26036"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1602-9"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.005"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00147"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2022.03.002"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa206"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2010.01112.x"},{"key":"e_1_3_4_22_2","first-page":"69","article-title":"Muscle biopsy\u2013technical and diagnostic aspects","volume":"6","author":"Dubowitz V","year":"1974","unstructured":"Dubowitz V. Muscle biopsy\u2013technical and diagnostic aspects. Ann Clin Res 1974; 6: 69\u201379.","journal-title":"Ann Clin Res"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.646778"},{"key":"e_1_3_4_24_2","article-title":"Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing","volume":"12","author":"Yu M","year":"2017","unstructured":"Yu M, Zheng Y, Jin S, et al. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One 2017; 12: e0175343.","journal-title":"PLoS One"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2018.08.2171"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.14.2141"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309009"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.01014"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364d6b1"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003163421104"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-84847-1_11"},{"key":"e_1_3_4_32_2","first-page":"279","article-title":"A severe form of familial desminopathy due to a homozygous nonsense DES variant in two siblings","volume":"54","author":"Claes L","unstructured":"Claes L, Schil KV, Dewals W, et al. A severe form of familial desminopathy due to a homozygous nonsense DES variant in two siblings. Neuropediatrics 2023 Aug; 54: 279\u2013286.","journal-title":"Neuropediatrics"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes10110918"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-021-01856-0"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2022.971501"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-012-1054-9"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24004"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.559327"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.003"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.009"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09680-8"},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000300"},{"key":"e_1_3_4_43_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01659.x"},{"key":"e_1_3_4_44_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.05.004"},{"key":"e_1_3_4_46_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg020"},{"key":"e_1_3_4_47_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123576.74801.75"},{"key":"e_1_3_4_48_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24102"},{"key":"e_1_3_4_49_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws103"},{"key":"e_1_3_4_50_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_3_4_51_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"e_1_3_4_52_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.11.005"},{"key":"e_1_3_4_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1103"},{"key":"e_1_3_4_54_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22683"},{"key":"e_1_3_4_55_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-015-0224-0"},{"key":"e_1_3_4_56_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13001"},{"key":"e_1_3_4_57_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.07.014"},{"key":"e_1_3_4_58_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.11.005"},{"key":"e_1_3_4_59_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041409"},{"key":"e_1_3_4_60_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2022.107386"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241289220","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602241289220","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602241289220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:49Z","timestamp":1777506769000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602241289220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":59,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1177\/22143602241289220"],"URL":"https:\/\/doi.org\/10.1177\/22143602241289220","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}