{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:56Z","timestamp":1791279956255,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,8,24]],"date-time":"2004-08-24T00:00:00Z","timestamp":1093305600000},"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":[[2004,10,15]]},"abstract":"Abstract<\/jats:title>\n \n Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by the homozygous loss of the\n SMN1<\/jats:italic>\n gene. The absence of the\n SMN1<\/jats:italic>\n gene has been shown to occur in all types of SMA, childhood and adult forms. In rare cases, asymptomatic family members have also been found with homozygous mutations in the\n SMN1<\/jats:italic>\n gene, suggesting a role for phenotypic modifiers. We describe three unrelated asymptomatic individuals, with family histories of SMA, who were shown to have the homozygous\n SMN1<\/jats:italic>\n deletion. Quantitative studies indicated that the three individuals all had increased\n SMN2<\/jats:italic>\n copy numbers. These cases not only support the role of\n SMN2<\/jats:italic>\n in modifying the phenotype, but our data also demonstrate that expression levels consistent with five copies of the\n SMN2<\/jats:italic>\n genes maybe enough to compensate for the absence of the\n SMN1<\/jats:italic>\n gene. Lastly, in cases similar to the ones described, the measurement of the\n SMN2<\/jats:italic>\n gene copy number may provide valuable prognostic information. \u00a9 2004 Wiley\u2010Liss, Inc.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.30251","type":"journal-article","created":{"date-parts":[[2004,8,24]],"date-time":"2004-08-24T18:06:09Z","timestamp":1093370769000},"page":"307-310","source":"Crossref","is-referenced-by-count":147,"title":["Homozygous\n SMN1<\/i>\n deletions in unaffected family members and modification of the phenotype by\n SMN2<\/i>"],"prefix":"10.1002","volume":"130A","author":[{"given":"Thomas W.","family":"Prior","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Denman","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley Q.","family":"Hejmanowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,8,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91507-9"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/513886"},{"key":"e_1_2_4_5_1","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben JM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1927"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1025-2"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.160181697"},{"key":"e_1_2_4_10_1","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"26","author":"Hsieh\u2010Li HM","year":"2000","journal-title":"Nat Genet"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.2.259"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2451"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.6.409"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.359"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"}],"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.30251","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30251","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:30:29Z","timestamp":1700249429000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8,24]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,10,15]]}},"alternative-id":["10.1002\/ajmg.a.30251"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30251","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,8,24]]}}}