{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:32:31Z","timestamp":1777516351760,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD is characterized by muscle weakness and atrophy predominantly affecting the calf muscles with symptoms onset between 14 and 40 years of age. There is no clear phenotype \u2013 genotype correlation for dysferlinopathy. We describe a 15-year-old girl who presented with a phenotype consistent with MMD. However, she was initially treated for presumed polymyositis without improvement. Subsequent genetic testing revealed two novel variants in DYSF: c.3225dup (p.Gly1076Trpfs*38) in exon 30 and c.3349-2A\u2009&gt;\u2009G (Splice acceptor) in intron 30. No dysferlin was detected in a muscle biopsy using immunostains and western blots, a result consistent with dysferlinopathy that supports the pathogenicity of the DYSF variants.<\/jats:p>","DOI":"10.1177\/2329048x221140298","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:57:51Z","timestamp":1668646671000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in\n                    <i>DYSF<\/i>\n                    Gene"],"prefix":"10.1177","volume":"9","author":[{"given":"Grace","family":"Bryant","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Iowa Carver College of Medicine and Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James S.","family":"Nix","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Rice","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Gokden","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3065-3956","authenticated-orcid":false,"given":"Aravindhan","family":"Veerapandiyan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"bibr1-2329048X221140298","volume-title":"GeneReviews((R))","author":"Aoki M","year":"1993"},{"key":"bibr2-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14216"},{"key":"bibr3-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27524"},{"key":"bibr4-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01284-y"},{"key":"bibr5-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-022-01320-z"},{"key":"bibr6-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24036"},{"key":"bibr7-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301339"},{"key":"bibr8-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000068333.43005.12"},{"key":"bibr9-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.8.1176"},{"key":"bibr10-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029538"},{"key":"bibr11-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.178038"},{"key":"bibr12-2329048X221140298","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22710"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221140298","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X221140298","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X221140298","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:58:22Z","timestamp":1777391902000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X221140298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":12,"alternative-id":["10.1177\/2329048X221140298"],"URL":"https:\/\/doi.org\/10.1177\/2329048x221140298","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"article-number":"2329048X221140298"}}