{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:15:23Z","timestamp":1780632923510,"version":"3.54.1"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,16]],"date-time":"2020-01-16T00:00:00Z","timestamp":1579132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Adult\u2010onset hereditary motor neuropathies are caused by mutations in multiple genes. Mutations within the vaccinia\u2010related kinase 1 (<jats:italic>VRK1<\/jats:italic>) gene were associated with a wide spectrum of recessively inherited motor neuropathies, characterized by childhood to early adulthood age of onset and an occasionally non\u2010lower motor neuron involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe two patients with adult\u2010onset (aged 48 and 40\u2009years) length\u2010dependent motor neuropathy from unrelated consanguineous families of Moroccan Jewish descent. One also demonstrated mild nocturnal respiratory difficulty and sensory symptoms. Whole\u2010exome sequencing (WES) was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A homozygous mutation in <jats:italic>VRK1<\/jats:italic> (c.1160G&gt;A (p.Arg387His)), shared by both patients, was identified. This rare mutation segregated with the disease in the two families, and was absent in 120 controls of Jewish Moroccan origin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings support <jats:italic>VRK1<\/jats:italic> as a causative gene for adult\u2010onset distal hereditary motor neuropathy, and indicate its relevance for evaluation of individuals with similar motor impairment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26779","type":"journal-article","created":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T10:41:00Z","timestamp":1576320060000},"page":"395-400","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of a homozygous <i>VRK1<\/i> mutation in two patients with adult\u2010onset distal hereditary motor neuropathy"],"prefix":"10.1002","volume":"61","author":[{"given":"Lior","family":"Greenbaum","sequence":"first","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Joseph Sagol Neuroscience Center, Sheba Medical Center  Tel Hashomer Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[{"name":"Cancer Research Center and Wohl Institute for Translational Medicine Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Nikitin","sequence":"additional","affiliation":[{"name":"Department of Neurology Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi","family":"Hersalis\u2010Eldar","sequence":"additional","affiliation":[{"name":"Department of Neurology Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitzan","family":"Kol","sequence":"additional","affiliation":[{"name":"Cancer Research Center and Wohl Institute for Translational Medicine Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haike","family":"Reznik\u2010Wolf","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Dominissini","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Cancer Research Center and Wohl Institute for Translational Medicine Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elon","family":"Pras","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel Hashomer Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Dori","sequence":"additional","affiliation":[{"name":"The Joseph Sagol Neuroscience Center, Sheba Medical Center  Tel Hashomer Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Department of Neurology Sheba Medical Center  Tel Hashomer 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