{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T12:47:57Z","timestamp":1753274877436},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,8,25]],"date-time":"2010-08-25T00:00:00Z","timestamp":1282694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous mutations in the Berardinelli\u2013Seip congenital lipodystrophy (<jats:italic>BSCL2<\/jats:italic>) gene have been associated with different clinical phenotypes including Silver syndrome\/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot\u2013Marie\u2013Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the <jats:italic>BSCL2<\/jats:italic> gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a <jats:italic>BSCL2<\/jats:italic> Ser90Leu mutation and describes the first Italian family with this mutation. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21734","type":"journal-article","created":{"date-parts":[[2010,9,8]],"date-time":"2010-09-08T16:05:29Z","timestamp":1283961929000},"page":"448-451","source":"Crossref","is-referenced-by-count":12,"title":["<i>SEIPIN<\/i> S90L Mutation in an Italian family with CMT2\/dHMN and pyramidal signs"],"prefix":"10.1002","volume":"42","author":[{"given":"M.","family":"Luigetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.M.","family":"Fabrizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Madia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Conte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Delgrande","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.A.","family":"Tonali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Sabatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,25]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijo.0802487"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1313"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.8.1612"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1966.tb00007.x"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/321267"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn216"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.06.047"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20792"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70110-3"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.158295"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20410"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2009.01011.x"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000171345.62270.29"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.028100"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0149-4"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20410"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn029"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0193-1"},{"key":"e_1_2_4_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-008-0937-y"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21734","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T13:06:50Z","timestamp":1696856810000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,25]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/mus.21734"],"URL":"https:\/\/doi.org\/10.1002\/mus.21734","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,25]]}}}