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초록
Elevated serum alpha-fetoprotein (AFP) can be an important clue for the diagnosis of certain types of autosomal recessive cerebellar ataxias, including ataxia telangiectasia (AT) and ataxia with oculomotor apraxia type 2 (AOA2), AOA1, or AOA4. In these disorders, diagnosis is confirmed through genetic testing based on clinical characteristics.
키워드
OCULOMOTOR APRAXIA TYPE-2; ATAXIA
- 제목
- A Case of AOA2 With Compound Heterozygous SETX Mutations
- 저자
- Chang, Hee Jin; Kim, Ryul; Kim, Minchae; Moon, Jangsup; Kim, Man Jin; Kim, Han-Joon
- 발행일
- 2022-05
- 유형
- Letter
- 권
- 15
- 호
- 2
- 페이지
- 178 ~ 180