{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:35Z","timestamp":1777857035027,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2022,9,1]]},"abstract":"<jats:p>This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T&gt;C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.<\/jats:p>","DOI":"10.3233\/jnd-220818","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T11:31:05Z","timestamp":1662118265000},"page":"803-808","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype"],"prefix":"10.1177","volume":"9","author":[{"given":"Agata","family":"Oliwa","sequence":"first","affiliation":[{"name":"Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuko","family":"Joseph","sequence":"additional","affiliation":[{"name":"Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eoghan","family":"Millar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Royal Hospital for Children, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iain","family":"Horrocks","sequence":"additional","affiliation":[{"name":"Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn","family":"Penman","sequence":"additional","affiliation":[{"name":"Department of Pathology, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Baptista","sequence":"additional","affiliation":[{"name":"Peninsula Medical School, Faculty of Heath, University of Plymouth, Plymouth, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Cullup","sequence":"additional","affiliation":[{"name":"North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panayiotis","family":"Constantinou","sequence":"additional","affiliation":[{"name":"West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Heuchan","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Royal Hospital for Children, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Department of Clinical Physics and Bioengineering, Royal Hospital for Children, NHS Greater Glasgow & Clyde, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Longman","sequence":"additional","affiliation":[{"name":"West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,9,1]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1172\/Jci84457"},{"key":"ref003","unstructured":"EllardS, BapleEL, CallawayA, BerryI, ForresterN, TurnbullC, et al ACGS best practice guidelines for variant classification in rare disease 2020: Association for clinical genomic science (ACGS); 2020 [09\/04\/2021]. 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