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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2023
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| Materias: | |
| 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 |