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

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-descri...

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Detalles Bibliográficos
Autores principales: Becker, Nicole, Sharma, Aditi, Gosse, Matthew, Kubat, Brooke, Conway, Kyle S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511743/
https://www.ncbi.nlm.nih.gov/pubmed/36163075
http://dx.doi.org/10.1186/s40478-022-01445-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511743/
https://www.ncbi.nlm.nih.gov/pubmed/36163075
http://dx.doi.org/10.1186/s40478-022-01445-1

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