{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:28:17Z","timestamp":1791098897712,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,6]]},"abstract":"Four private mutations responsible for three forms demyelinating of Charcot\u2010Marie\u2010Tooth (CMT<\/jats:styled-content>) or hereditary motor and sensory neuropathy (HMSN<\/jats:styled-content>) have been associated with the Gypsy population: the NDRG1<\/jats:styled-content><\/jats:italic> p.R148X<\/jats:styled-content> in CMT<\/jats:styled-content> type 4D<\/jats:styled-content> (CMT4D<\/jats:styled-content>\/HMSN<\/jats:styled-content>\u2010Lom); p.C737_P738delinsX and p.R1109X<\/jats:styled-content> mutations in the SH3TC2<\/jats:styled-content><\/jats:italic> gene (CMT4C<\/jats:styled-content>); and a G>C change in a novel alternative untranslated exon in the HK1<\/jats:styled-content><\/jats:italic> gene causative of CMT4G<\/jats:styled-content> (CMT4G<\/jats:styled-content>\/HMSN<\/jats:styled-content>\u2010Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT<\/jats:styled-content>. The most frequent form is CMT4C<\/jats:styled-content> (57.14%), followed by HMSN<\/jats:styled-content>\u2010Russe (25%) and HMSN<\/jats:styled-content>\u2010Lom (17.86%). The relevant frequency of HMSN<\/jats:styled-content>\u2010Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT<\/jats:styled-content> form. HMSN<\/jats:styled-content>\u2010Russe probands share the same haplotype confirming that the HK1<\/jats:styled-content><\/jats:italic> g.9712G<\/jats:styled-content>>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN<\/jats:styled-content>\u2010Russe is a progressive CMT<\/jats:styled-content> disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range.<\/jats:p>","DOI":"10.1111\/cge.12015","type":"journal-article","created":{"date-parts":[[2012,9,15]],"date-time":"2012-09-15T05:27:44Z","timestamp":1347686864000},"page":"565-570","source":"Crossref","is-referenced-by-count":37,"title":["Genetics of the Charcot\u2010Marie\u2010Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy\u2010Russe in depth"],"prefix":"10.1111","volume":"83","author":[{"given":"T","family":"Sevilla","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas(CIBERNED) Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Mart\u00ednez\u2010Rubio","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Medicine Unit Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cient\u00edficas (CSIC) Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"M\u00e1rquez","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Virgen del Roc\u00edo Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Paradas","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital Virgen del Roc\u00edo Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Colomer","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"},{"name":"Department of Neurology Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Jaijo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"},{"name":"Grupo de Investigaci\u00f3n en Enfermedades Neurosensoriales Instituto de Investigaci\u00f3n Sanitaria (IIS) La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JM","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"},{"name":"Grupo de Investigaci\u00f3n en Enfermedades Neurosensoriales Instituto de Investigaci\u00f3n Sanitaria (IIS) La Fe Valencia Spain"},{"name":"Genetics Unit Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Palau","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Medicine Unit Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cient\u00edficas (CSIC) Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Espin\u00f3s","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Valencia Spain"},{"name":"Neurogenetics Platform Instituto de Investigaci\u00f3n Sanitaria (IIS) La Fe Valencia Spain"},{"name":"Department of Genetics University of Valencia Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302978"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00774.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.99"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.3.399"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230225.19797.93"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.006"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1137"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156517.00615.A3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.5.813"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg202"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2010.00286.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034132"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10240"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022178"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/303053"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2588"}],"container-title":["Clinical 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