{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:01:08Z","timestamp":1769605268824,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["15\u201031899A"],"award-info":[{"award-number":["15\u201031899A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>Hereditary motor and sensory neuropathy type Russe (<jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content>), also called <jats:styled-content style=\"fixed-case\">CMT4G<\/jats:styled-content>, is an autosomal recessive inherited peripheral neuropathy (<jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content>) caused by a founder mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">HK1<\/jats:styled-content><\/jats:italic> gene. <jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content> affects only patients with Roma origin, similar to the better known <jats:styled-content style=\"fixed-case\">HMSN<\/jats:styled-content> type Lom clarified earlier. By testing <jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content> patients with Roma origin, we realized that <jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content> affects surprisingly many patients in the Czech Republic. <jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content> is one of the most frequent types of <jats:styled-content style=\"fixed-case\">IPN<\/jats:styled-content> in this country and appears to be twice more frequent than <jats:styled-content style=\"fixed-case\">HMSNL<\/jats:styled-content>. Pronounced lower limb atrophies and severe deformities often lead to walking inability in even young patients, but hands are usually only mildly affected even after many years of disease duration. The group of 20 patients with <jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content> presented here is the first report about the prevalence of <jats:styled-content style=\"fixed-case\">HMSNR<\/jats:styled-content> from central Europe.<\/jats:p>","DOI":"10.1111\/cge.12745","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T09:29:09Z","timestamp":1454059749000},"page":"161-165","source":"Crossref","is-referenced-by-count":9,"title":["<scp>HSMNR<\/scp> belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than <scp>HMSNL<\/scp>"],"prefix":"10.1111","volume":"90","author":[{"given":"D.","family":"\u0160afka Bro\u017ekov\u00e1","sequence":"first","affiliation":[{"name":"DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mazanec","sequence":"additional","affiliation":[{"name":"Department of Neurology, 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"La\u0161t\u016fvkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Masaryk Hospital Regional Health Corporation  \u00dast\u00ed nad Labem Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Seeman","sequence":"additional","affiliation":[{"name":"DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/424759"},{"key":"e_1_2_6_3_1","unstructured":"Council of Europe. Estimates on Roma Population in European Countries fromhttp:\/\/www.coe.int\/cs\/web\/portal\/roma\/. Accessed on November 20 2015."},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-2-5"},{"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\/303053"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-214"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302978"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.99"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12015"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-013-0168-7"},{"key":"e_1_2_6_12_1","first-page":"202","article-title":"HMSN\u2010Russe in two Spanish patients: distinctive features of the disease and current genetic findings","volume":"3","author":"Colomer J","year":"2001","journal-title":"Acta Myol."},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00098-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-13-134"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01640.x"},{"key":"e_1_2_6_16_1","unstructured":"Population and Housing Census2011 fromhttps:\/\/vdb.czso.cz\/vdbvo2\/faces\/en\/index.jsf?page=home. 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