A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
Journal of the Korean Neurological Association
; : 19-22, 2021.
Article
in Ko
| WPRIM
| ID: wpr-875042
Responsible library:
WPRO
ABSTRACT
A 30-year-old female patient presented with a progressive gait disturbance, who had been previously diagnosed for cataract and ovarian failure. Brain magnetic resonance imaging showed a high signal intensity of white matter in fluid attenuated inversion recovery and low signal intensity in brain volume imaging, suggesting demyelinating leukodystrophy. Genetic analysis confirmed the pathogenic homozygous mutations c.245T>A in the EIF2B2 gene, which is associated with vanishing white matter disease.
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Index:
WPRIM
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2021
Type:
Article