{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T05:50:53Z","timestamp":1760853053290},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4543,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1992,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot\u2010Marie\u2010Tooth disease type 1 (CMT1), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMT1A). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the CMT1A locus, and a duplication of D17S122 has been detected in some families. We show that the locus D17S122 is duplicated in affected individuals from 7 informative families with HMSNI. The duplication was demonstrated either by differences in hybridization densities between two bands of a restriction fragment length polymorphism or by the presence of all three alleles. No normal individual had the duplication. A single recombinant exists between the MspI polymorphism of D17S122 and the duplicated band, suggesting that the duplication is of considerable size. Patients with HMSN type II do not show the duplication. These findings will have considerable impact on the diagnosis of chronic demyelinating neuropathies, in patients with or without similarly affected relatives.<\/jats:p>","DOI":"10.1002\/ana.410310518","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:11:34Z","timestamp":1104581494000},"page":"570-572","source":"Crossref","is-referenced-by-count":35,"title":["Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot\u2010Marie\u2010Tooth disease type 1)"],"prefix":"10.1002","volume":"31","author":[{"given":"P. J.","family":"Hallam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. E.","family":"Harding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Berciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. F.","family":"Barker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Malcolm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"915","article-title":"Genetic linkage and heterogeneity in type 1 Charcot\u2010Marie\u2010Tooth disease (hereditary motor and sensory neuropathy type I)","volume":"47","author":"Chance PF","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_2","first-page":"106","article-title":"Multicolor fluorescence in situ hybridisation dissects demyelinating Charcot\u2010Marie\u2010Tooth disease gene region","volume":"98","author":"Lebo R","year":"1990","journal-title":"J Neurol Sciences"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-4886(89)80013-5"},{"key":"e_1_2_1_5_2","first-page":"92","article-title":"Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17","volume":"46","author":"Middleton\u2010Price HR","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_2","first-page":"953","article-title":"Localization of the mutation in an extended family with Charcot\u2010Marie\u2010Tooth neuropathy (HMSNI)","volume":"45","author":"Raeymakers P","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_2","first-page":"801","article-title":"Genetic mapping of the autosomal dominant Charcot\u2010Marie\u2010Tooth disease in a large French\u2010Arcadian Kindred: identification of new linked markers on chromosome 17","volume":"46","author":"Patel PI","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90355-I"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90055-W"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90299-1"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.8.669"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_14_2","unstructured":"HallamPJ HardingAE Pericak\u2010VanceMA MalcolmS. Linkage map of Charcot\u2010Marie\u2010Tooth type 1 (CMTla) on the short arm of chromosome 17.Cytogenet Cell Genet1992(in press)"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","unstructured":"LoprestL Pericak\u2010VanceMA StajichJ et al. Linkage studies in Charcot\u2010Marie\u2010Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.Neurology1992(in press)","DOI":"10.1212\/WNL.42.3.597"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90127-9"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410310518","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410310518","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T14:24:18Z","timestamp":1698071058000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410310518"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,5]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1992,5]]}},"alternative-id":["10.1002\/ana.410310518"],"URL":"https:\/\/doi.org\/10.1002\/ana.410310518","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,5]]}}}