{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:05Z","timestamp":1772160065371,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype\u2013phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of\n                    <jats:italic>DYSF<\/jats:italic>\n                    . The most common initial phenotype was Miyoshi myopathy in 50 patients. Median ages at examination and symptom onset were 23 [interquartile range (IQR): 18\u201330] and 36\u2009years [IQR: 27\u201348], respectively. We observed 38 variants, including nine novel variants. Four variants (c.2494C\u2009&gt;\u2009T, c.1284\u2009+\u20092 T\u2009&gt;\u2009C, c.663\u2009+\u20091G\u2009&gt;\u2009C, and c.2997G\u2009&gt;\u2009T) in\n                    <jats:italic>DYSF<\/jats:italic>\n                    accounted for 62% of total allele frequencies of pathogenic variants. To analyze the genotype\u2013phenotype correlation, we compared the clinical phenotype between patients with null\/null (N\/N; n = 55) and null\/missense variants (N\/M; n = 35). The N\/N group had an earlier symptom onset age (median: 20\u2009years [IQR: 17\u201325]) than the N\/M group (median: 29\u2009years [IQR: 23\u201335],\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u2009.001). Total manual muscle testing scores in lower extremities were lower in the N\/N group (median: 80 [IQR: 56\u201392]) than in the N\/M group (median: 89 [IQR: 78\u201398],\n                    <jats:italic>p<\/jats:italic>\n                    = .013). Our study is the first to report that null variants in\n                    <jats:italic>DYSF<\/jats:italic>\n                    result in an earlier symptom onset than missense variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.13887","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T15:48:18Z","timestamp":1605887298000},"page":"396-406","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Null variants in\n                    <scp>\n                      <i>DYSF<\/i>\n                    <\/scp>\n                    result in earlier symptom onset"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4165-8901","authenticated-orcid":false,"given":"Hyung Jun","family":"Park","sequence":"first","affiliation":[{"name":"Department of Neurology Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Bin","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Biochemistry College of Medicine, Dong\u2010A University  Busan South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji\u2010Man","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology Yongin Severance Hospital, Yonsei University College of Medicine  Yongin South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"UnKyu","family":"Yun","sequence":"additional","affiliation":[{"name":"Department of Neurology Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Woo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ha Young","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Neurology Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Min","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young\u2010Chul","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurology Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.855"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01573"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20910"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25367"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.8.1176"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12826"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.12.007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.4.423"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.006"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2990.2002.00417.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.03.007"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.08.006"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9355"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.649"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.149386"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.70"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301339"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000036"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000068333.43005.12"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000501102"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24036"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000089"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-317329"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.06.243"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20642"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-002-0593-x"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.178038"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2010.090058"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ea1564"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-317488"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.190671"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9364"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.41.532"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13887","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13887","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T16:59:25Z","timestamp":1693587565000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,8]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/cge.13887"],"URL":"https:\/\/doi.org\/10.1111\/cge.13887","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13887\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13887\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,8]]},"assertion":[{"value":"2020-10-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}