Annals of Clinical Neurophysiology
- 제6권1호
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- Pages.61-63
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- 2004
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- 2508-691X(pISSN)
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- 2508-6960(eISSN)
임상양상과 유전자수가 비전형적인 연관관계를 갖는 근긴장성 이영양증 형제 1례
Atypical Correlation between CTG Repeat Size Variation and Clinical Manifestation in Brothers of Myotonic Dystrophy
- 김정미 (서울보훈병원 신경과) ;
- 조은경 (서울보훈병원 신경과) ;
- 조정선 (서울보훈병원 신경과) ;
- 최용석 (서울보훈병원 신경과) ;
- 한영수 (서울보훈병원 신경과) ;
- 한정호 (서울보훈병원 신경과) ;
- 김두응 (서울보훈병원 신경과)
- Kim, Jung-Mee (Department of Neurology, Seoul Veterans Hospital) ;
- Cho, Eun-Kyoung (Department of Neurology, Seoul Veterans Hospital) ;
- Cho, Jeong-Seon (Department of Neurology, Seoul Veterans Hospital) ;
- Choi, Yong-Suk (Department of Neurology, Seoul Veterans Hospital) ;
- Han, Young-Su (Department of Neurology, Seoul Veterans Hospital) ;
- Han, Jeong-Ho (Department of Neurology, Seoul Veterans Hospital) ;
- Kim, Doo-Eung (Department of Neurology, Seoul Veterans Hospital)
- 발행 : 2004.05.31
초록
The copy numbers of the CTG repeats are known to relate to the severity of clinical symptoms for myotonic dystrophy. The positive correlation between clinical manifestations and CTG repeat size has been demonstrated previously. A genetically confirmed myotonic dystrophy patient with 90 CTG repeat number had more severe clinical manifestation than brother with 120 CTG repeats, in adulthood.