{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:50:57Z","timestamp":1790369457625,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,4,24]],"date-time":"2009-04-24T00:00:00Z","timestamp":1240531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report, for the first time, on a female Becker muscular dystrophy (BMD) patient with homozygous\n                    <jats:italic>dystrophin<\/jats:italic>\n                    deletion. The 14\u2010year\u2010old patient, product of consanguineous parents, presented with a 7\u2010year history of exercise intolerance and recurrent myoglobinuria. Although CK was elevated to 1,800 U\/L, no muscle weakness, atrophy, or hypertrophy was seen on examination. Muscle pathology demonstrated a minimal dystrophic change and faint dystrophin staining pattern. Semi\u2010quantitative PCR of\n                    <jats:italic>dystrophin<\/jats:italic>\n                    revealed a homozygous\n                    <jats:italic>dystrophin<\/jats:italic>\n                    deletion of exons 45\u201355, which is predicted to remove 593 amino acids without frame shifting. Western blot analysis of skeletal muscle for dystrophin showed a 306 kDa band; thus, we made a diagnosis of female BMD. We confirmed identical deletion in both father and mother, in hemizygous and heterozygous modes, respectively. Neither female Duchenne muscular dystrophy (DMD) nor BMD due to homozygous\n                    <jats:italic>dystrophin<\/jats:italic>\n                    mutation has ever been identified although female DMD has been found in patients with Turner syndrome or unilateral parental disomy for X chromosome. Our results indicate that dystrophinopathy can also be caused in females by homozygosity, albeit rare. \u00a9 2009 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32808","type":"journal-article","created":{"date-parts":[[2009,4,27]],"date-time":"2009-04-27T18:40:49Z","timestamp":1240857649000},"page":"1052-1055","source":"Crossref","is-referenced-by-count":36,"title":["Homozygous female Becker muscular dystrophy"],"prefix":"10.1002","volume":"149A","author":[{"given":"Katsunori","family":"Fujii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narihiro","family":"Minami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuya","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuzo","family":"Tanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010ichi","family":"Takanashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Kohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,4,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20428"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282093"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.1.1-a"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0159-4"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00585-4"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.2.529"},{"key":"e_1_2_4_8_1","first-page":"160","article-title":"Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy","volume":"60","author":"Quan F","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00270570"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095920"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02655.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32808","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32808","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T23:35:05Z","timestamp":1697585705000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,24]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["10.1002\/ajmg.a.32808"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32808","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,24]]}}}