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Here, we present a case of LBSL, with a novel c.1192-2A&gt;G\u2009mutation.<\/jats:p>","DOI":"10.1136\/bcr-2018-227755","type":"journal-article","created":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T04:27:12Z","timestamp":1547180832000},"page":"bcr-2018-227755","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene"],"prefix":"10.1136","volume":"12","author":[{"given":"Anudeep","family":"Yelam","sequence":"first","affiliation":[{"name":"Neurology, University of Missouri Health Care, Columbia, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0521-9485","authenticated-orcid":false,"given":"Elanagan","family":"Nagarajan","sequence":"additional","affiliation":[{"name":"Neurology, Howard Hughes Medical Institute, School of Medicine, University of Missouri Columbia, Columbia, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Chuquilin","sequence":"additional","affiliation":[{"name":"Neurology, University of Florida College of Medicine, Gainesville, Florida, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raghav","family":"Govindarajan","sequence":"additional","affiliation":[{"name":"Neurology, University of Missouri Health Care, Columbia, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,1,10]]},"reference":[{"key":"2025082722210259000_12.1.bcr-2018-227755.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1329395"},{"key":"2025082722210259000_12.1.bcr-2018-227755.2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10456"},{"key":"2025082722210259000_12.1.bcr-2018-227755.3","unstructured":"van der Knaap MS , Salomons GS . Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews. 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