Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

Abstract Background Vanishing white matter (VWM) is a leukodystrophy, caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B)‐subunit genes (EIF2B1–EIF2B5); 80% are missense mutations. Clinical severity is highly variable, with a strong, unexplained genotype–phenotype correlation. M...

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Bibliographic Details
Main Authors: Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. deEsch, Chris deGraaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. van derKnaap
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
eIF2B mutations
genotype–phenotype correlation
vanishing white matter
3D model structure
Online Access:https://doi.org/10.1002/mgg3.1593

Internet

https://doi.org/10.1002/mgg3.1593

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