{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:37:31Z","timestamp":1780634251406,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,3]],"date-time":"2018-12-03T00:00:00Z","timestamp":1543795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2015J01395"],"award-info":[{"award-number":["2015J01395"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671271"],"award-info":[{"award-number":["81671271"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vaccinia\u2010related kinase 1 (<jats:italic><jats:styled-content style=\"fixed-case\">VRK<\/jats:styled-content>1<\/jats:italic>) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (<jats:styled-content style=\"fixed-case\">dHMN<\/jats:styled-content>), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous <jats:italic><jats:styled-content style=\"fixed-case\">VRK<\/jats:styled-content>1<\/jats:italic> p.W375X mutation causing recessive <jats:styled-content style=\"fixed-case\">dHMN<\/jats:styled-content>. The proband presented with juvenile onset of weakness in the distal lower extremities, slowly progressing to the distal upper limbs, with bilateral pes cavus and no upper motor or sensory neuron involvement. Nerve conduction studies showed a pure motor axonal neuropathy. Our findings extend the ethnic distribution of <jats:italic><jats:styled-content style=\"fixed-case\">VRK<\/jats:styled-content>1<\/jats:italic> mutations, indicating that these mutations should be included in genetic diagnostic testing for <jats:styled-content style=\"fixed-case\">dHMN<\/jats:styled-content>.<\/jats:p>","DOI":"10.1002\/acn3.701","type":"journal-article","created":{"date-parts":[[2018,12,3]],"date-time":"2018-12-03T10:09:06Z","timestamp":1543831746000},"page":"401-405","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A novel <i>VRK1<\/i> mutation associated with recessive distal hereditary motor neuropathy"],"prefix":"10.1002","volume":"6","author":[{"given":"Shu\u2010Yan","family":"Feng","sequence":"first","affiliation":[{"name":"Department of Neurophysiology Henan Provincial People's Hospital Zhenzhou 450003 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu\u2010Yi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Henan Provincial People's Hospital Zhenzhou 450003 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010Man","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Neurology Henan Provincial People's Hospital Zhenzhou 450003 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8277-1110","authenticated-orcid":false,"given":"Zhang\u2010Yu","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Neurology Fujian Medical University Union Hospital Fuzhou 350001 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-300952"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003772"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.231"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22684"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000319696.14225.67"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001680"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/518900"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002813"},{"key":"e_1_2_7_10_1","first-page":"1491","article-title":"Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly","volume":"70","author":"Gonzaga\u2010Jauregui C","year":"2013","journal-title":"JAMA Neurol"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000096"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Facn3.701","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T23:40:57Z","timestamp":1694734857000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,3]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1002\/acn3.701"],"URL":"https:\/\/doi.org\/10.1002\/acn3.701","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,3]]},"assertion":[{"value":"2018-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}