{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T15:21:31Z","timestamp":1780586491293,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T00:00:00Z","timestamp":1724025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006447","name":"Universit\u00e4t Z\u00fcrich","doi-asserted-by":"publisher","award":["praeclare"],"award-info":[{"award-number":["praeclare"]}],"id":[{"id":"10.13039\/501100006447","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alterations in the X\u2010linked recessive <jats:italic>DMD<\/jats:italic> gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) to cardiomyopathy or intellectual disability. Carrier females are commonly unaffected but may show signs of dystrophinopathies. In addition, few asymptomatic male carriers with elevated creatine kinase levels have been described possibly related to deletions around exon 48. We now further support this assumed genotype\u2013phenotype correlation by reporting an attenuated phenotype in a three\u2010generation family with a deletion of exon 48 of the <jats:italic>DMD<\/jats:italic> gene with clinically unaffected carrier males and females. We confirmed deep intronic breakpoints in this family by genome sequencing, but such data are not available for published cases. Therefore, further observations are needed to clarify genotype\u2013phenotype correlation in this region, since few reports also describe predicted in\u2010frame copy number changes affecting this region in association with classical signs of dystrophinopathies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63842","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T11:50:14Z","timestamp":1724068214000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Further evidence for an attenuated phenotype of in\u2010frame <i>DMD<\/i> deletions affecting the central rod domain of dystrophin around exon 48"],"prefix":"10.1002","volume":"197","author":[{"given":"Olga","family":"B\u00fcrger","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Humbel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Ivanovski","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Baumer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-3163","authenticated-orcid":false,"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich  Schlieren Switzerland"},{"name":"Pediatric University Hospital Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1348.058"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"issue":"1","key":"e_1_2_7_4_1","first-page":"54","article-title":"Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies","volume":"49","author":"Beggs A. 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