{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T18:32:37Z","timestamp":1786559557376,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2023M743949"],"award-info":[{"award-number":["2023M743949"]}],"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":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the\n                    <jats:italic>LAMA2<\/jats:italic>\n                    gene. In this study, we investigated a family affected by CMD from a remote rural area. The proband exhibited typical muscle weakness symptoms, though with a delayed onset. By combining whole\u2010exome sequencing with bioinformatics analysis, we explored the genetic aetiology of this family. A novel homozygous missense mutation (NM_000426: c.7412G&gt;A; p.G2471D) of the\n                    <jats:italic>LAMA2<\/jats:italic>\n                    gene was detected in the proband. The proband's parents were found to carry the heterozygous mutation. Bioinformatic analysis indicated that the amino acid residue is highly conserved and has low tolerance to variation, suggesting a high pathogenic potential of the mutation. Based on genetic analysis, the proband was subsequently diagnosed with MDC1A. In conclusion, a novel\n                    <jats:italic>LAMA2<\/jats:italic>\n                    mutation was identified in a Chinese family with CMD. This discovery not only offers valuable insights for the patient's diagnosis and potential therapeutic strategies but also broadens the known spectrum of\n                    <jats:italic>LAMA2<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.70667","type":"journal-article","created":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T03:54:26Z","timestamp":1754106866000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <scp>\n                      <i>LAMA2<\/i>\n                    <\/scp>\n                    Mutation (c.\n                    <scp>7412G<\/scp>\n                    &gt;A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9691-4784","authenticated-orcid":false,"given":"Meifang","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Nephrology, Xiangya Hospital Central South University  Changsha China"},{"name":"Department of Cell Biology, School of Life Sciences Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxing","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Xiangya Hospital Central South University  Changsha China"},{"name":"Department of Cell Biology, School of Life Sciences Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangliang","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Xiangya Hospital Central South University  Changsha China"},{"name":"Department of Cell Biology, School of Life Sciences Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaochuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Xinjiang Medical University  Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihong","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Neurology The Affiliated Hospital of Yangzhou University  Yangzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,1]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2019.10.005"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-022-00306-8"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210652"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27648"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-016-0289-9"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.saa.2024.125236"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-004-4510-4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24147"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24588"},{"key":"e_1_2_10_11_1","first-page":"36","article-title":"Two Interesting Cases of Congenital 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