{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:37Z","timestamp":1786978357079,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T00:00:00Z","timestamp":1714089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present a case of fetal akinesia deformation sequence due to nemaline myopathy (NM). In addition to the muscle manifestations, prenatal observations included an enlarged subarachnoid space and delayed cortical development. Trio whole\u2010exome sequencing revealed a de novo novel pathogenic variant in the\n                    <jats:italic>ACTA1<\/jats:italic>\n                    gene, which encodes skeletal muscle alpha\u2010actin. Our findings suggest that brain abnormalities can occur prenatally in NM and support the potential role of skeletal muscle alpha\u2010actin in the central nervous system.\n                  <\/jats:p>","DOI":"10.1002\/pd.6568","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T08:59:11Z","timestamp":1714121951000},"page":"996-998","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel variant in\n                    <i>ACTA1<\/i>\n                    identified in a fetus with akinesia deformation sequence and cortical development delay"],"prefix":"10.1002","volume":"44","author":[{"given":"Clara","family":"Mart\u00ednez\u2010Diago","sequence":"first","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mademont\u2010Soler","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Bonmat\u00ed","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlota","family":"Rodo","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Hospital Universitari Vall d\u2019Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Alberch","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Obon","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bego\u00f1a","family":"Fuertes","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3225-9095","authenticated-orcid":false,"given":"Anna","family":"Maroto","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine Hospital Universitari Dr Josep Trueta  Girona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2023.12.005"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2017.13.3.300"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.03.004"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010015\u20100364\u20100"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102148\u20108\u2010166"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T22:38:24Z","timestamp":1720046304000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,26]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/pd.6568"],"URL":"https:\/\/doi.org\/10.1002\/pd.6568","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,26]]},"assertion":[{"value":"2024-01-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}