A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and gl...

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Detalles Bibliográficos
Autores principales: Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240855/
https://www.ncbi.nlm.nih.gov/pubmed/37284702
http://dx.doi.org/10.1177/2329048X231176673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240855/
https://www.ncbi.nlm.nih.gov/pubmed/37284702
http://dx.doi.org/10.1177/2329048X231176673

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