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dc.contributor.authorOliwa, A
dc.contributor.authorJoseph, S
dc.contributor.authorMillar, E
dc.contributor.authorHorrocks, I
dc.contributor.authorPenman, D
dc.contributor.authorBaptista, J
dc.contributor.authorCullup, T
dc.contributor.authorConstantinou, P
dc.contributor.authorHeuchan, A-M
dc.contributor.authorHamilton, R
dc.contributor.authorLongman, C
dc.date.accessioned2022-10-26T17:08:51Z
dc.date.available2022-10-26T17:08:51Z
dc.date.issued2022-09-01
dc.identifier.issn2214-3599
dc.identifier.issn2214-3602
dc.identifier.urihttp://hdl.handle.net/10026.1/19757
dc.description.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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.</jats:p>

dc.format.extent1-6
dc.format.mediumPrint
dc.languageeng
dc.language.isoeng
dc.publisherIOS Press
dc.subjectArthrogryposis
dc.subjectcataract
dc.subjectBICD2
dc.subjectSMA-LED2
dc.subjectspinal muscular atrophy lower extremity predominant
dc.titleCataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype
dc.typejournal-article
dc.typeArticle
plymouth.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/36057830
plymouth.issue6
plymouth.volume9
plymouth.publisher-urlhttp://dx.doi.org/10.3233/jnd-220818
plymouth.publication-statusPublished
plymouth.journalJournal of Neuromuscular Diseases
dc.identifier.doi10.3233/jnd-220818
plymouth.organisational-group/Plymouth
plymouth.organisational-group/Plymouth/Faculty of Health
plymouth.organisational-group/Plymouth/Faculty of Health/Peninsula Medical School
plymouth.organisational-group/Plymouth/Users by role
plymouth.organisational-group/Plymouth/Users by role/Academics
dc.publisher.placeNetherlands
dcterms.dateAccepted2022-08-13
dc.rights.embargodate2022-10-28
dc.identifier.eissn2214-3602
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.3233/jnd-220818
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review


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