{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:31:30Z","timestamp":1777516290910,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Quebec - Sant\u00e9","doi-asserted-by":"publisher","award":["Research Scholar Junior 1 award"],"award-info":[{"award-number":["Research Scholar Junior 1 award"]}],"id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2021,1,1]]},"abstract":"<jats:p>Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one with a more severe upper motor neuron phenotype as a result of a suspected perinatal hypoxic-ischemic event and the other presenting a typical lower motor neuron phenotype. Using exome sequencing, we identified the novel de novo variant c.752G&gt;T; p.Arg251Leu in DYNC1H1. We thereby add this variant to the growing list of mutations in DYNC1H1 that cause SMALED1.<\/jats:p>","DOI":"10.1177\/2329048x211027438","type":"journal-article","created":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T05:13:11Z","timestamp":1627017191000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel\n                    <i>De Novo<\/i>\n                    Variant in\n                    <i>DYNC1H1<\/i>\n                    Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report"],"prefix":"10.1177","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7862-4890","authenticated-orcid":false,"given":"Alexa","family":"Derksen","sequence":"first","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montr\u00e9al, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amytice","family":"Mirchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"},{"name":"Department of Pediatrics, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luan T.","family":"Tran","sequence":"additional","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montr\u00e9al, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Cao-Lei","sequence":"additional","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montr\u00e9al, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Oskoui","sequence":"additional","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montr\u00e9al, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"},{"name":"Department of Pediatrics, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Srour","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, Canada"},{"name":"Department of Pediatrics, McGill University, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Poulin","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, McGill 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Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,7,23]]},"reference":[{"key":"bibr1-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.04.011"},{"key":"bibr2-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7727-2"},{"key":"bibr3-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-00208-6"},{"key":"bibr4-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1620141114"},{"key":"bibr5-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.223"},{"key":"bibr6-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"bibr7-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.07.002"},{"key":"bibr8-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0337-6"},{"key":"bibr9-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2613"},{"key":"bibr10-2329048X211027438","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104063"}],"container-title":["Child 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