Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report

COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the COA8 gene. Clinically, it presents heterogeneously and usually follows a bi-phasic clinical course with a period of acute onset and regression, followed by stabilization,...

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Bibliografske podrobnosti
Main Authors: Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Isabelle Thiffault, Peter V. Gould, Geneviève Bernard
Format: Article
Jezik:English
Izdano: Frontiers Media S.A. 2023-08-01
Serija:Frontiers in Cellular Neuroscience
Teme:
Online dostop:https://www.frontiersin.org/articles/10.3389/fncel.2023.1216487/full