{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T15:44:53Z","timestamp":1768405493427,"version":"3.49.0"},"reference-count":54,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Ministry for Culture and Innovation","award":["TKP2021-NKTA-34"],"award-info":[{"award-number":["TKP2021-NKTA-34"]}]},{"name":"the University of Debrecen","award":["TKP2021-NKTA-34"],"award-info":[{"award-number":["TKP2021-NKTA-34"]}]},{"name":"ELIXIR Hungary","award":["TKP2021-NKTA-34"],"award-info":[{"award-number":["TKP2021-NKTA-34"]}]},{"name":"the Faculty of Medicine, University of Debrecen","award":["TKP2021-NKTA-34"],"award-info":[{"award-number":["TKP2021-NKTA-34"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3\u20135 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype.<\/jats:p>","DOI":"10.3390\/ijms232113076","type":"journal-article","created":{"date-parts":[[2022,10,30]],"date-time":"2022-10-30T04:57:34Z","timestamp":1667105854000},"page":"13076","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2836-3383","authenticated-orcid":false,"given":"Zsuzsanna","family":"Sz\u0171cs","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5724-6859","authenticated-orcid":false,"given":"\u00c9va","family":"Pinti","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, Semmelweis University, 1094 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e9n","family":"Haltrich","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, Semmelweis University, 1094 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsolya P\u00e1ln\u00e9","family":"Sz\u00e9n","sequence":"additional","affiliation":[{"name":"Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4451-0796","authenticated-orcid":false,"given":"Tibor","family":"Nagy","sequence":"additional","affiliation":[{"name":"Bioinformatics and Functional Genome Analysis Research Group, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Endre","family":"Barta","sequence":"additional","affiliation":[{"name":"Bioinformatics and Functional Genome Analysis Research Group, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Department of Genetics and Genomics, Institute of Genetics and Biotechnology, Hungarian University of Agriculture and Life Sciences, 2100 G\u00f6d\u00f6ll\u0151, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"M\u00e9hes","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"Bidiga","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"T\u00f6r\u00f6k","sequence":"additional","affiliation":[{"name":"Medical and Health Science Centre, Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik\u00f3","family":"Ujfalusi","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Koczok","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3397-2829","authenticated-orcid":false,"given":"Istv\u00e1n","family":"Balogh","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1186\/s13023-021-01862-w","article-title":"The Clinical Course of Duchenne Muscular Dystrophy in the Corticosteroid Treatment Era: A Systematic Literature Review","volume":"16","author":"Szabo","year":"2021","journal-title":"Orphanet J. 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