{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:08:06Z","timestamp":1787314086977,"version":"build-2736575974"},"reference-count":42,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T00:00:00Z","timestamp":1507248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001322","name":"South African Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>While extraocular muscles (EOMs) are affected early in generalized myasthenia gravis (MG), and their treatment responsiveness is similar to nonocular muscles, we have identified an ophthalmoplegic (OP) subphenotype that remains resistant to treatment. This subphenotype of ophthalmoplegic MG (OP\u2010MG) most commonly affects acetylcholine receptor antibody\u2010positive cases with juvenile\u2010onset MG and African genetic ancestry. However, a few OP\u2010MG cases have been found with MuSK antibodies and triple\u2010seronegative MG. In a proportion of OP\u2010MG cases, the EOM treatment resistance manifests from treatment initiation, while in others the EOMs may initially respond until a critical trigger, such as treatment interruption or crisis. The management of OP\u2010MG is an unmet need. Managing the visual disability may require a surgical or nonsurgical solution. The ideal case selection for surgery and the timing of surgery should be carefully considered. The pathogenesis of OP\u2010MG remains unknown. A genetic study, using extended whole\u2010exome sequencing and an \u201cextreme\u201d phenotype sample of OP\u2010MG versus control MG cases differing only by their EOM responsivity to therapy, discovered several potentially functional OP\u2010MG risk variants. These variants implicate myogenesis and gangliosphingolipid biosynthesis pathways at the EOM endplates in OP\u2010MG.<\/jats:p>","DOI":"10.1111\/nyas.13471","type":"journal-article","created":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T05:02:42Z","timestamp":1507266162000},"page":"14-20","source":"Crossref","is-referenced-by-count":18,"title":["A unique subphenotype of myasthenia gravis"],"prefix":"10.1111","volume":"1412","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8999-718X","authenticated-orcid":false,"given":"Jeannine M.","family":"Heckmann","sequence":"first","affiliation":[{"name":"Neurology Division, Department of Medicine University of Cape Town, Groote Schuur Hospital  Cape Town South Africa"},{"name":"Neurology Research Group, Department of Medicine University of Cape Town  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Nel","sequence":"additional","affiliation":[{"name":"Neurology Research Group, Department of Medicine University of Cape Town  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24348"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000311012"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.152637"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.07.011"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.100545"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304788"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.09.001"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.07.002"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.7196\/SAMJ.5390"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.009"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1405.037"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25154"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2006.108498"},{"key":"e_1_2_9_15_1","doi-asserted-by":"crossref","DOI":"10.1097\/WNO.0000000000000534","article-title":"Extraocular muscle findings in myasthenia gravis associated treatment\u2010resistant ophthalmoplegia: a case report","author":"Rautenbach R.M.","year":"2017","journal-title":"J. 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