{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:32:04Z","timestamp":1779895924517,"version":"3.53.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5271,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a survey of 454 families with patients affected with Duchenne muscular dystrophy (DMD) we have found 4 genealogies with 2 or more affected patients who were related through paternal lines. In 1 of these families, 2 affected cousins showed different DNA deletions suggesting 2 independent mutations; in the other 2, in which only the propositus could be studied, DNA deletions were also detected in the dystrophin gene. In the last one, with 3 affected patients, no DNA deletions were detected but immunohistochemical study of muscle biopsies showed a negative dystrophin pattern typical of DMD.<\/jats:p><jats:p>Although one of these families might have occurred by chance, the probability of finding the other 3 in our sample of families with DMD patients constitutes a rare event. It is suggested that other mechanisms, such as the presence of transposable elements in other sites of the genome, could be responsible in some families, for a greater predisposition for the occurrence of pathogenic deletions, duplications or mutations.<\/jats:p>","DOI":"10.1002\/ajmg.1320380118","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:04:39Z","timestamp":1118549079000},"page":"80-84","source":"Crossref","is-referenced-by-count":13,"title":["Familial occurrence of Duchenne dystrophy through paternal lines in four families"],"prefix":"10.1002","volume":"38","author":[{"given":"Mayana","family":"Zatz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Rapaport","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariz","family":"Vainzof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799293"},{"key":"e_1_2_1_3_1","unstructured":"BundeyS(1990).A Personal communication."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/329556a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90091-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982403"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330123"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285169"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230160"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.6.369"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/332164a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)91590-X"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283688"},{"key":"e_1_2_1_14_1","unstructured":"MiciakA KeenA JadayetD BundeyS(1990):Multiple mutation in an extended DMD pedigree. (Manuscript in preparation)."},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281063"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.145"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00702859"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","unstructured":"VainzofM PavanelloRCM Pavanello\u2010FilhoI Passos\u2010BuenoMR RapaportD ChuTH ZatzM(1990): Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: A Brazilian study.J Neurol Sci(in press).","DOI":"10.1016\/0022-510X(90)90263-M"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320328"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380118","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T03:24:08Z","timestamp":1698031448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajmg.1320380118"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380118","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}