{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:55Z","timestamp":1791279955707,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,3,16]]},"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:p>Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G&gt;C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotype analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G&gt;C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity.<\/jats:p>","DOI":"10.1136\/jmg.2010.079004","type":"journal-article","created":{"date-parts":[[2010,6,24]],"date-time":"2010-06-24T22:42:21Z","timestamp":1277419341000},"page":"640-642","source":"Crossref","is-referenced-by-count":86,"title":["The c.859G&gt;C variant in the\n                    <i>SMN2<\/i>\n                    gene is associated with types II and III SMA and originates from a common ancestor"],"prefix":"10.1136","volume":"47","author":[{"given":"S","family":"Bernal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Al\u00edas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Barcel\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Also-Rallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Mart\u00ednez-Hern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"G\u00e1mez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Guill\u00e9n-Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Rosell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Hernando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F J","family":"Rodr\u00edguez-Alvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Borrego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Mill\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Hern\u00e1ndez-Chico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baiget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Fuentes-Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E F","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2010,6,24]]},"reference":[{"key":"2025100511234422000_47.9.640.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"2025100511234422000_47.9.640.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"2025100511234422000_47.9.640.3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21173"},{"key":"2025100511234422000_47.9.640.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(97)00459-8"},{"key":"2025100511234422000_47.9.640.5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"2025100511234422000_47.9.640.6","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"2025100511234422000_47.9.640.7","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0912-y"},{"key":"2025100511234422000_47.9.640.8","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803d35bc"},{"key":"2025100511234422000_47.9.640.9","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1212\/01.WNL.0000132634.48815.13","article-title":"Detection of novel mutations in the SMN Tudor domain in type I SMA patients","volume":"63","author":"Cusc\u00c3\u00b3","year":"2004","journal-title":"Neurology"},{"key":"2025100511234422000_47.9.640.10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0598-1"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2010.079004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:23:53Z","timestamp":1759688633000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2010.079004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,24]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2010,8,26]]},"published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1136\/jmg.2010.079004"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2010.079004","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,24]]}}}