{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T04:34:07Z","timestamp":1774326847058,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:00:00Z","timestamp":1608768000000},"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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the <jats:italic>GNE<\/jats:italic> gene have been so far described as predominantly associated with distal lower\u2010limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe three patients displaying motor neuropathy in association with <jats:italic>GNE<\/jats:italic> mutations. Clinical, electrophysiological, imaging, pathological, and genetic data are presented in a retrospective manner.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The three patients had different phenotypes, ranging from mildly progressive lower limb weakness to a rapidly progressive 4\u2010limb weakness. Genetic testing revealed <jats:italic>GNE<\/jats:italic> gene mutations in all patients; of those mutations, p.(His186Arg) has not been previously reported. All patients showed evidence of axonal motor nerve involvement on electrodiagnostic examination and\/or muscle biopsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Nerve involvement associated with <jats:italic>GNE<\/jats:italic> gene mutations may be an underdiagnosed pathology and may influence clinical presentation and disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27102","type":"journal-article","created":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T12:13:40Z","timestamp":1603455220000},"page":"396-401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Motor axonal neuropathy associated with <scp><i>GNE<\/i><\/scp> mutations"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4493-1133","authenticated-orcid":false,"given":"Nicolae","family":"Grecu","sequence":"first","affiliation":[{"name":"C\u00f4te d'Azur University, Peripheral Nervous System and Muscle Department Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Villa","sequence":"additional","affiliation":[{"name":"C\u00f4te d'Azur University, Peripheral Nervous System and Muscle Department Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Ristaino","sequence":"additional","affiliation":[{"name":"C\u00f4te d'Azur University, Peripheral Nervous System and Muscle Department Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariane","family":"Choumert","sequence":"additional","affiliation":[{"name":"Rare Neurological Diseases Department La R\u00e9union University Hospital  Saint\u2010Pierre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Butori","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Laboratory Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Department of Women and Children's Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4218-6128","authenticated-orcid":false,"given":"Angela","family":"Puma","sequence":"additional","affiliation":[{"name":"C\u00f4te d'Azur University, Peripheral Nervous System and Muscle Department Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Krahn","sequence":"additional","affiliation":[{"name":"Aix\u2010Marseille Universit\u00e9, Inserm, U1251\u2010MMG, Marseille Medical Genetics  Marseille France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, APHM H\u00f4pital Timone Enfants  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Cerino","sequence":"additional","affiliation":[{"name":"Aix\u2010Marseille Universit\u00e9, Inserm, U1251\u2010MMG, Marseille Medical Genetics  Marseille France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, APHM H\u00f4pital Timone Enfants  Marseille France"},{"name":"APHM, H\u00f4pital de la Conception, Laboratoire de Biochimie  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"C\u00f4te d'Azur University, Peripheral Nervous System and Muscle Department Nice University Hospital  Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307051"},{"key":"e_1_2_8_3_1","first-page":"e308","article-title":"GNE genotype explains 20% of phenotypic variability in GNE myopathy","volume":"5","author":"Pogoryelova 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