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전체진유전체염기서열분석에서 동종접합점돌돌변이 EIF2B2유전자이상이 확인된 소멸백질병
A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
- 김애령;
- 박동호;
- 이종목
초록
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.
키워드
Leukoencephalopathies; Cataract; Primary ovarian insufficiency
- 제목
- 전체진유전체염기서열분석에서 동종접합점돌돌변이 EIF2B2유전자이상이 확인된 소멸백질병
- 제목 (타언어)
- A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
- 저자
- 김애령; 박동호; 이종목
- 발행일
- 2021-02
- 유형
- Y
- 저널명
- 대한신경과학회지
- 권
- 39
- 호
- 1
- 페이지
- 19 ~ 22
- 언어
- KOR
- 출판사
- 대한신경과학회
- 발행국가
- 대한민국
- 분량
- 4 페이지
- ISSN
- E 2288-985X
P 1225-7044