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Diagnostic workup including muscle biopsy and postmortem analysis, oxymetric analysis, spectrophotometric enzyme analysis, and MitoExome sequencing revealed a necrotizing leukoencephalomyelopathy due to the so far unreported biallelic variant of the <jats:italic>NDUFV1<\/jats:italic> gene (p.(Pro122Leu)). This case extends our understanding of <jats:italic>NDUFV1<\/jats:italic> variants with a 14\u2010fold longer lifetime than so far reported cases, and will foster sensitivity toward respiratory chain disease also in adult patients with sudden deteriorating neurological deficits.<\/jats:p>","DOI":"10.1002\/acn3.51556","type":"journal-article","created":{"date-parts":[[2022,4,28]],"date-time":"2022-04-28T14:55:08Z","timestamp":1651157708000},"page":"888-892","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Early\u2010onset leukoencephalomyelopathy due to a biallelic <scp><i>NDUFV1<\/i><\/scp> variant in a mid\u2010forties patient"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5623-1313","authenticated-orcid":false,"given":"Markus","family":"Gschwind","sequence":"first","affiliation":[{"name":"Clinic of Neurology Kantonsspital Aarau  Aarau Switzerland"},{"name":"Department of 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