{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:08:07Z","timestamp":1777802887854,"version":"3.51.4"},"reference-count":6,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2000,12]]},"abstract":"<jats:p>We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy, negative gene testing for spinal muscular atrophy, CMT1a, and CMTX1 and a normal brain magnetic resonance image. The proband's mother, an obligate carrier, had normal nerve conduction studies. Male infants with a spinal muscular atrophy phenotype but normal genetic studies should be evaluated for this fatal X-linked neuropathy. (J Child Neurol 2000; 15:829-830).<\/jats:p>","DOI":"10.1177\/088307380001501217","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T19:24:33Z","timestamp":1201202673000},"page":"829-830","source":"Crossref","is-referenced-by-count":0,"title":["Fatal Infantile X-Linked Neuropathy"],"prefix":"10.1177","volume":"15","author":[{"given":"Elizabeth","family":"Sekul","sequence":"first","affiliation":[{"name":"Departments of Neurology and Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"Carroll","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farivar","family":"Yaghmai","sequence":"additional","affiliation":[{"name":"Department of Pathology Medical College of Georgia Augusta, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawna L.","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Pathology Texas Children's Hospital Houston, Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William K.","family":"Seltzer","sequence":"additional","affiliation":[{"name":"Athena Diagnostics, Inc. Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2000,12,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.2.541"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880180302"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330519"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.9987"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1213"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307380001501217","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307380001501217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:34:19Z","timestamp":1777494859000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307380001501217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12]]},"references-count":6,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2000,12]]}},"alternative-id":["10.1177\/088307380001501217"],"URL":"https:\/\/doi.org\/10.1177\/088307380001501217","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,12]]}}}