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Brain magnetic resonance imaging studies showed diffuse white matter lesions, and sural nerve biopsy identified a reduction in the large myelinated nerve fibers. The patients' mother and sister exhibited similar, but milder neurologic findings suggesting that the genetic defect may be X\u2010linked; however, a point mutation in the connexin 32 gene was negative. Muscle Nerve 28: 623\u2013625, 2003<\/jats:p>","DOI":"10.1002\/mus.10442","type":"journal-article","created":{"date-parts":[[2003,10,17]],"date-time":"2003-10-17T12:04:08Z","timestamp":1066392248000},"page":"623-625","source":"Crossref","is-referenced-by-count":3,"title":["X\u2010linked motor and sensory neuropathy with pyramidal signs and cerebral white matter lesions"],"prefix":"10.1002","volume":"28","author":[{"given":"Hirofumi","family":"Goto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Ohnishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Fukudome","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noritoshi","family":"Shibuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,16]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.66.2.202"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540310035013"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280109"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470230025003"},{"key":"e_1_2_6_6_2","first-page":"1094","volume-title":"Peripheral neuropathy","author":"Dyck PJ","year":"1993"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb08597.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.12.1107"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360222"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.47.2.168"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/61.9.747"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1996.tb00040.x"},{"key":"e_1_2_6_13_2","first-page":"392","article-title":"Correlation between conduction studies and morphometric findings of sural nerves from 8 normal volunteers","volume":"24","author":"Nagaki J","year":"1984","journal-title":"Clin Neurol"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.61.1.43"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.11.1027"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.63.1.4"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.10442","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.10442","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T19:44:43Z","timestamp":1696707883000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.10442"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,16]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2003,11]]}},"alternative-id":["10.1002\/mus.10442"],"URL":"https:\/\/doi.org\/10.1002\/mus.10442","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,16]]}}}