{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T09:02:56Z","timestamp":1781082176687,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004569","name":"Ministerstwo Nauki i Szkolnictwa Wy\u017cszego","doi-asserted-by":"publisher","award":["OPK \u2010 510\u201018\u201062"],"award-info":[{"award-number":["OPK \u2010 510\u201018\u201062"]}],"id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant\n                    <jats:italic>in trans<\/jats:italic>\n                    with a 148 kbp deletion encompassing 3\u201036 exons of\n                    <jats:italic>AGRN<\/jats:italic>\n                    . Pathogenic variants in\n                    <jats:italic>AGRN<\/jats:italic>\n                    have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood with variable fatigable muscle weakness. To the best of our knowledge, this is the first case of FADS caused by defects in\n                    <jats:italic>AGRN<\/jats:italic>\n                    gene. FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance:\n                    <jats:italic>MuSK<\/jats:italic>\n                    ,\n                    <jats:italic>DOK7<\/jats:italic>\n                    , and\n                    <jats:italic>RAPSN<\/jats:italic>\n                    . FADS seems to be the most severe form of CMS. None of the reported in the literature CMS cases associated with\n                    <jats:italic>AGRN<\/jats:italic>\n                    had two null variants, like the case presented herein. This indicates a strong genotype\u2010phenotype correlation.\n                  <\/jats:p>","DOI":"10.1111\/cge.13677","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T11:06:16Z","timestamp":1573815976000},"page":"634-638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Null variants in\n                    <i>AGRN<\/i>\n                    cause lethal fetal akinesia deformation sequence"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-8751","authenticated-orcid":false,"given":"Maciej","family":"Geremek","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lech","family":"Dudarewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Polish Mother's Memorial Hospital  \u0141\u00f3d\u017a Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Paczkowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Smyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Sobecka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1132-4"},{"issue":"19","key":"e_1_2_9_3_1","first-page":"2279","article-title":"A novel AGRN mutation leads to congenital Myasthenic syndrome only affecting limb\u2010girdle muscle","volume":"130","author":"Zhang Y","year":"2017","journal-title":"Chin Med J 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