{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:29:00Z","timestamp":1777627740827,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,7,9]],"date-time":"2016-07-09T00:00:00Z","timestamp":1468022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Ministry of Education and Research"},{"DOI":"10.13039\/501100010764","name":"German Motor Neuron Disease Network","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010764","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Heterozygous <jats:italic>BICD2<\/jats:italic> gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the <jats:italic>BICD2<\/jats:italic> gene in a selected group of 25 index patients with neurogenic muscle atrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 2 new <jats:italic>BICD2<\/jats:italic> missense mutations, c.2515G&gt;A, p.Gly839Arg, in a family with autosomal dominant inheritance, and c.2202G&gt;T, p.Lys734Asn, as a <jats:italic>de novo<\/jats:italic> mutation in an isolated patient with similar phenotype. The patients had congenital foot contractures, muscle atrophy of the legs, and slowly progressive weakness of the shoulder girdle. There was no apparent sensory or brain dysfunction. One patient died of unrelated reasons at age 52 years. Autopsy revealed no upper motor neuron and only moderate lower motor neuron loss, but there was distal corticospinal tract degeneration and marked neurogenic muscular atrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings give further insight into the clinical and pathoanatomical consequences of <jats:italic>BICD2<\/jats:italic> mutations. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>54<\/jats:bold>: 496\u2013500, 2016<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25114","type":"journal-article","created":{"date-parts":[[2016,3,22]],"date-time":"2016-03-22T06:05:43Z","timestamp":1458626743000},"page":"496-500","source":"Crossref","is-referenced-by-count":23,"title":["Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of <i>BICD2<\/i> mutations"],"prefix":"10.1002","volume":"54","author":[{"given":"Sabine","family":"Rudnik\u2010Sch\u00f6neborn","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Uniklinik RWTH Aachen Aachen Germany"},{"name":"Division of Human Genetics Medical University Innsbruck Peter\u2010Mayr\u2010Strasse 1, 6020 Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Deden","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Essen Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Sellhaus","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfred","family":"Yamoah","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand","family":"Goswami","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Uniklinik RWTH Aachen Aachen Germany"},{"name":"Department of Neurology Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Uniklinik RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170210"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200229"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws108"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.011"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.018"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.013"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu356"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306777"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.25114","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.25114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:38:15Z","timestamp":1696606695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.25114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,9]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1002\/mus.25114"],"URL":"https:\/\/doi.org\/10.1002\/mus.25114","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,9]]}}}