{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:52:49Z","timestamp":1778633569324,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,10,3]],"date-time":"2018-10-03T00:00:00Z","timestamp":1538524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011102","name":"EU Seventh Framework Programme","doi-asserted-by":"publisher","award":["FP7\/2007\u20102013"],"award-info":[{"award-number":["FP7\/2007\u20102013"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. <jats:italic>Methods<\/jats:italic>: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were further studied for disease\u2010associated features. <jats:italic>Results<\/jats:italic>: GNE myopathy was confirmed in 14 of the 37 patients (37.8%) screened. All cases were caused by the p.M743T mutation. Age of onset and time from disease onset to loss of ambulation were variable. Both wasted and hypertrophied calf muscles were noted. Severely affected quadriceps were present in 1 patient, and ptosis, ophthalmoplegia, and tongue wasting in another. <jats:italic>Discussion<\/jats:italic>: The scope of the p.M743T mutation now includes the Arabian Peninsula. Variations in age of onset, disease progression, and distribution in patients harboring the same mutation suggest the role of other genetic\u2010 and environment\u2010modifying factors. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>58<\/jats:bold>: 700\u2013707, 2018<\/jats:p>","DOI":"10.1002\/mus.26337","type":"journal-article","created":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T10:37:57Z","timestamp":1536316677000},"page":"700-707","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6980-6972","authenticated-orcid":false,"given":"Hadil","family":"Alrohaif","sequence":"first","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine Newcastle University, International Centre for Life  Newcastle upon Tyne UK"},{"name":"Kuwait Medical Genetics Centre, Sabah Health District  Shuwaikh Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oksana","family":"Pogoryelova","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine Newcastle University, International Centre for Life  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Al\u2010Ajmi","sequence":"additional","affiliation":[{"name":"Department of Neurology Jahra Hospital  Jahra Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulwa A.","family":"Aljeryan","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Sabah Health District  Shuwaikh Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuwayer H.","family":"Alrashidi","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Sabah Health District  Shuwaikh Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara A.","family":"Alefasi","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Sabah Health District  Shuwaikh Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Centre Neuromusculaire, Filnemus, Hopital Marin  Hendaye France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine Newcastle University, International Centre for Life  Newcastle upon Tyne UK"},{"name":"Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine Medical Center\u2013University of Freiburg, Mathildenstrasse 1  Freiburg 79160 Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico, Center for Genomic Regulation, Barcelona Institute of Science and Technology  Barcelona Spain"},{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa  Ottawa Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital  Ottawa Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laila","family":"Bastaki","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Sabah Health District  Shuwaikh Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.07.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.39.24319"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.39.24313"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9100"},{"issue":"2","key":"e_1_2_6_6_1","first-page":"S73\u2010S76","article-title":"GNE myopathy: two clusters with history and several founder mutations","volume":"2","author":"Argov Z","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000061617.71839.42"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306314"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-305587"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.04.028"},{"key":"e_1_2_6_11_1","unstructured":"The Government of Kuwait. 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