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Article

The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.

Acta neuropathologica communications - 26 Sept 2022

Becker Nicole, Sharma Aditi, Gosse Matthew, Kubat Brooke, Conway Kyle S

Abstract excerpt

Pathogenic variants in the NDUFV1 gene, which codes for complex I of the mitochondrial respiratory chain, have been associated with a variety of clinical phenotypes, including a progressive cavitating leukoencephalopathy. The neuropathology of NDUFV1-associated leukoencephalopathy is not well-described. We present a report of a 24-year-old female with two pathogenic variants in the NDUFV1 gene, together with...

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Identifiers

PMID: 36163075
DOI: 10.1186/s40478-022-01445-1
PMCID: PMC9511743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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