{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T20:15:42Z","timestamp":1775074542688,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T00:00:00Z","timestamp":1702857600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013784","name":"Fu Jen Catholic University","doi-asserted-by":"publisher","award":["FJCU\u2010111\u2010A0111220\/A0111221~A0111223"],"award-info":[{"award-number":["FJCU\u2010111\u2010A0111220\/A0111221~A0111223"]}],"id":[{"id":"10.13039\/501100013784","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["physoc.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Physiological Reports"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb\u2010girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD\u2010D) and autosomal recessive (LGMD\u2010R) inheritance patterns. Mutations in the <jats:italic>Dysferlin<\/jats:italic> gene (<jats:italic>DYSF<\/jats:italic>) are common causes of LGMD\u2010R. However, genetic screening of <jats:italic>DYSF<\/jats:italic> mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c.937+1G&gt;A mutation in <jats:italic>DYSF<\/jats:italic> from a Taiwanese family with LGMD. The primary symptoms of both siblings were difficulty climbing stairs, walking on the toes, and gradually worsening weakness in the proximal muscles and increased creatine kinase level. Through pedigree analysis and sequencing, two siblings from this family were found to have compound heterozygous <jats:italic>DYSF<\/jats:italic> mutations (c. 937+1G&gt;A and c. 2867_2871del ACCAG) within the separated alleles. These mutations induced early stop codons; if translated, truncated DYSF proteins will be expressed. Or, the mRNA products of these two mutations will merit the nonsense\u2010mediated decay, might result in no dysferlin protein expressed. To our knowledge, this is the first report of a novel c.2867_2871del ACCAG deletion in <jats:italic>DYSF<\/jats:italic>. Further research is required to examine the effects of the novel <jats:italic>DYSF<\/jats:italic> mutation in Taiwanese patients with LGMD.<\/jats:p>","DOI":"10.14814\/phy2.15887","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T05:41:14Z","timestamp":1702964474000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb\u2010girdle muscular dystrophy"],"prefix":"10.14814","volume":"11","author":[{"given":"Yen\u2010Lin","family":"Chen","sequence":"first","affiliation":[{"name":"Center for Precision Medicine and Genomics, Tri\u2010Service General Hospital Medical Defense Medical Center  Taipei Taiwan"},{"name":"Department of Pathology, Tri\u2010Service General Hospital Medical Defense Medical Center  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Bin","family":"Wu","sequence":"additional","affiliation":[{"name":"School of Medicine, College of Medicine Fu Je Catholic University  New Taipei City Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Medicine, College of Medicine Fu Je Catholic University  New Taipei City Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping\u2010Keung","family":"Yip","sequence":"additional","affiliation":[{"name":"School of Medicine, College of Medicine Fu Je Catholic University  New Taipei City Taiwan"},{"name":"Division of Neurology Cardinal Tien Hospital  New Taipei City Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010No","family":"Wu","sequence":"additional","affiliation":[{"name":"School of Medicine, College of Medicine Fu Je Catholic University  New Taipei City Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying\u2010Hung","family":"Lin","sequence":"additional","affiliation":[{"name":"Graduate Institute of Biomedical and Pharmaceutical Science Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3205-871X","authenticated-orcid":false,"given":"Wei\u2010Ning","family":"Lin","sequence":"additional","affiliation":[{"name":"Graduate Institute of Biomedical and Pharmaceutical Science Fu Jen Catholic University  New Taipei City 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