{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:01Z","timestamp":1777803601373,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2012,5,23]],"date-time":"2012-05-23T00:00:00Z","timestamp":1337731200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>A case of lower motor neuron disease with homozygous survival motor neuron 2 ( SMN2) gene deletion is reported in this article. A 7-year-old boy was admitted to our hospital with main complaints of lower extremity weakness and difficulty squatting for the past year. SMN gene copies were quantified by multiplex ligation-dependent probe amplification. Exons 7 and 8 of the SMN1 gene were normal, but homozygous deletion of exons 7 and 8 of the SMN2 gene was identified. Homozygous deletion of exons 7 and 8 of the SMN centromeric gene was detected, and exons 7 and 8 of the SMN1 gene were found to be normal in the proband. Two copies of exons 7 and 8 of the SMN1 gene were identified, and zero copies of exons 7 and 8 of the SMN2 gene were found. We consider that this case represents a previously unrecognized type of lower motor neuron disease that resulted from homozygous deletion of the SMN2 gene.<\/jats:p>","DOI":"10.1177\/0883073812445505","type":"journal-article","created":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T16:31:11Z","timestamp":1337963471000},"page":"509-516","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Homozygous Survival Motor Neuron 2 Gene Deletion and Sporadic Lower Motor Neuron Disease in Children"],"prefix":"10.1177","volume":"28","author":[{"given":"Lu","family":"Liping","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma","family":"Hongwei","sequence":"additional","affiliation":[{"name":"Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,5,23]]},"reference":[{"key":"bibr1-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"bibr2-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390616"},{"key":"bibr3-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.6.710"},{"key":"bibr4-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.6.749"},{"key":"bibr5-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1007\/s004150200007"},{"key":"bibr6-0883073812445505","first-page":"368","volume":"40","author":"Kim Juwon","year":"2010","journal-title":"Ann Clin Lab Sci"},{"key":"bibr7-0883073812445505","first-page":"245","volume":"42","author":"Su Zongquan","year":"2009","journal-title":"J Child Neurol"},{"key":"bibr8-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000233830.85206.1e"},{"key":"bibr9-0883073812445505","doi-asserted-by":"publisher","DOI":"10.3109\/17482960902759162"},{"key":"bibr10-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0235-9"},{"key":"bibr11-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"bibr12-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1038\/ng.132"},{"key":"bibr13-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.8.1171"},{"key":"bibr14-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-265"},{"key":"bibr15-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"bibr16-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10104"},{"key":"bibr17-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430513"},{"key":"bibr18-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1386"},{"key":"bibr19-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10277"},{"key":"bibr20-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90177-X"},{"key":"bibr21-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90082-5"},{"key":"bibr22-0883073812445505","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305673"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812445505","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812445505","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812445505","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:03Z","timestamp":1777495023000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812445505"}},"subtitle":["Case Report and Literature Review"],"short-title":[],"issued":{"date-parts":[[2012,5,23]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1177\/0883073812445505"],"URL":"https:\/\/doi.org\/10.1177\/0883073812445505","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,23]]}}}