{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:42:40Z","timestamp":1792136560666,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012465","name":"Nemours Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012465","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Swank Foundation"},{"name":"NIH-NIGMS COBRE Program","award":["P20-GM-103464"],"award-info":[{"award-number":["P20-GM-103464"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the \u03b3\u2010subunit of the nicotinic acetylcholine receptor (<jats:italic>CHRNG<\/jats:italic>). <jats:italic>CHRNG<\/jats:italic> is expressed in fetal muscle during motor development and contributes to the formation of neuromuscular junctions (NMJs). Anomalies in NMJ structure and function have not been investigated in patients with Escobar syndrome. We report five patients identified as having Escobar syndrome, from four families. In three families, the same mutation (c.459dupA) was identified in <jats:italic>CHRNG<\/jats:italic>. A biopsy from brachioradialis muscle was collected from a patient from one of these families and analyzed for NMJ organization using fluorescence microscopy. Compared to spinalis muscle from control patients with idiopathic scoliosis or cerebral palsy (CP), the patient with Escobar syndrome had a significantly higher degree of acetylcholine receptor present outside acetylcholinesterase and significantly less acetylcholinesterase outside acetylcholine receptors. Given the role of the acetylcholine receptor \u03b3\u2010subunit in fetal neuromuscular signal transduction and in establishing the primary encounter of muscle and motor nerve terminal, the <jats:italic>CHRNG<\/jats:italic> mutations described in Escobar syndrome may cause a broader disruption of postsynaptic proteins and result in aberrant development of the NMJ due to impaired prenatal neuromuscular transmission and\/or abnormal neuromuscular synaptogenesis. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36154","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:30:40Z","timestamp":1376674240000},"page":"3042-3048","source":"Crossref","is-referenced-by-count":15,"title":["Neuromotor synapses in Escobar syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Karyn G.","family":"Robinson","sequence":"first","affiliation":[{"name":"Nemours Biomedical Research Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Viereck","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan V.","family":"Margiotta","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Abdul\u2010Rahman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mississippi Medical Center Jackson Mississippi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Akins","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.01.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1092360315"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/506257"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835f9ac0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.018119"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-009-9248-x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.11.006"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.11.009"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/506256"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0070288"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/embo-reports\/kvf128"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200202000-00017"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20401"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2008.02411.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.016"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065425"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100378"}],"container-title":["American 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