{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:54:21Z","timestamp":1791104061660,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":4609,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe three families with X\u2010linked recessive Charcot\u2013Marie\u2013Tooth (CMT) neuropathies. The disease phenotype in family 1 was characterized by infantile onset, weakness of lower legs, areflexia, pes cavus, and mental retardation (2 of 5 patients). The disease phenotype in families 2 and 3 was characterized by late onset, distal weakness, and normal intelligence. Hereditary spastic paraparesis was also present in the CMT patients of family 2. Thirty X\u2010linked DNA markers were used for linkage studies. A maximum lod score of +3.48 was obtained by multipoint linkage analysis for the DXS16 locus mapped at Xp22.2 in family 1. In families 2 and 3, there was suggestion of linkage of Xq26 markers; the peak mutlipoint lod score for these 2 CMT families was 1.81, at DXS144. These results were suggestive of heterogeneity. The joint analysis including both regions (Xp22.2 and Xq26) provided evidence against homogeneity (\u03c7<jats:sup>2<\/jats:sup> = 9.12, <jats:italic>P<\/jats:italic> &lt; 0.005).<\/jats:p>","DOI":"10.1002\/mus.880150317","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T03:14:56Z","timestamp":1104549296000},"page":"368-373","source":"Crossref","is-referenced-by-count":43,"title":["X\u2010linked recessive Charcot\u2013Marie\u2010Tooth neuropathy: Clinical and genetic study"],"prefix":"10.1002","volume":"15","author":[{"given":"Victor V.","family":"Ionasescu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Trofatter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan L.","family":"Haines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Summers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Ionasescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Searby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200214"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198704163161604"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1093\/oxfordjournals.jhered.a105311","article-title":"A pedigree of sex\u2010linked recessive peroneal atrophy","volume":"35","author":"Erwin WG","year":"1944","journal-title":"J Hered"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200414"},{"key":"e_1_2_1_6_2","first-page":"614","article-title":"Linkage studies of X\u2010linked neuropathy and spinal muscular atrophy","volume":"46","author":"Fischbeck KH","year":"1987","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290228"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880111108"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/10.5.1557"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_1_11_2","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_2","volume-title":"Analysis of Human Genetic Linkage","author":"Ott J","year":"1985"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_14_2","first-page":"312","article-title":"Combination de\u013eamyotrophie de Charcot\u2010Marie\u2010Tooth et de la maladie de Friedreich chez plusieurs membres d'une m\u011bme famille","volume":"34","author":"Van Bogaert L","year":"1939","journal-title":"Encephale"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880150317","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880150317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T15:13:30Z","timestamp":1698074010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880150317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1002\/mus.880150317"],"URL":"https:\/\/doi.org\/10.1002\/mus.880150317","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,3]]}}}