EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report

BACKGROUND: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a consequence white matter is more prone to cellular stress....

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Detalles Bibliográficos
Autores principales: Filareto, Ilaria, Cinelli, Giulia, Scalabrini, Ilaria, Caramaschi, Elisa, Bergonzini, Patrizia, Spezia, Elisabetta, Todeschini, Alessandra, Iughetti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327270/
https://www.ncbi.nlm.nih.gov/pubmed/35897042
http://dx.doi.org/10.1186/s13052-022-01325-3

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