Article
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Molecular genetics & genomic medicine - 1 Mar 2021
Slynko Inna, Nguyen Stephanie, Hamilton Eline M C, Wisse Lisanne E, de Esch Iwan J P, de Graaf Chris, Bruning John B, Proud Christopher G, Abbink Truus E M, van der Knaap Marjo S
Abstract excerpt
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. MATERIALS AND METHODS: With information from a recent natural history study, we severity-graded 97 missense mutations. Using...
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