{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:17:34Z","timestamp":1777803454329,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"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":[[2014,2]]},"abstract":"<jats:p>\n                    Spinal muscular atrophy is an autosomal-recessive neuromuscular disorder, causing progressive proximal weakness and atrophy of the voluntary muscles. More than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in\n                    <jats:italic>SMN1<\/jats:italic>\n                    , the telomeric copy of the\n                    <jats:italic>SMN<\/jats:italic>\n                    gene. We report a young male patient with neurogenic symptoms and sparse muscle fiber atrophy, suggestive of a mild form of type III spinal muscular atrophy. He was found to be a carrier of intragenic mutations in both copies of the\n                    <jats:italic>SMN<\/jats:italic>\n                    gene, exhibiting a homozygous duplication of exons 7 and 8 in\n                    <jats:italic>SMN1<\/jats:italic>\n                    and a homozygous deletion of exon 8 as well as a heterozygous deletion of exon 7 in\n                    <jats:italic>SMN2<\/jats:italic>\n                    . However, an intact full-length\n                    <jats:italic>SMN1<\/jats:italic>\n                    complementary deoxyribonucleic acid was identified, and SMN protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy III.\n                  <\/jats:p>","DOI":"10.1177\/0883073813511858","type":"journal-article","created":{"date-parts":[[2013,12,12]],"date-time":"2013-12-12T21:10:14Z","timestamp":1386882614000},"page":"254-259","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the\n                    <i>SMN<\/i>\n                    Gene"],"prefix":"10.1177","volume":"29","author":[{"given":"Laura Nanna","family":"Lohkamp","sequence":"first","affiliation":[{"name":"Department of Neuropathology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja von","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics\/SPZ, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans-Hilmar","family":"Goebel","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"},{"name":"Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfram","family":"Kress","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Julius-Maximilians-University, W\u00fcrzburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Grieben","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics\/SPZ, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Drossel","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics\/SPZ, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutz","family":"Garbes","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank L.","family":"Heppner","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Stenzel","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_3_4_3_2","first-page":"423","article-title":"Germany)","volume":"2","author":"Munsat TL, Davies KE. International SMA Consortium meeting. (26-28 June 1992, Bonn","year":"1992","unstructured":"Munsat TL, Davies KE. International SMA Consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2:423\u2013428.","journal-title":"Neuromuscul Disord"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200210"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.08.011"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20111"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0455-7"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0598-1"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0156-7"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201032"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1727"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813511858","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813511858","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813511858","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:23Z","timestamp":1777494983000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813511858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,11]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1177\/0883073813511858"],"URL":"https:\/\/doi.org\/10.1177\/0883073813511858","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,11]]}}}