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J Korean Neurol Assoc. 2012;30(4):333-336.
- Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S
Mutation in BSCL2 Gene
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Hwa Kyoung Chung
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Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea
Department of Biological Science
a
, Kongju National University, Gongju, Korea
Department of Pathology
b
, Ewha Womans University School of Medicine, Seoul, Korea
- BSCL2유전자의 N88S돌연변이가 확인된 제5형
원위유전운동신경병증(dHMN-V)
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정화경, 정기화
a
박진모 구혜수
b
최경규 박기덕 최병옥
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이화여자대학교 의과대학 신경과학교실, 공주대학교 자연과학대학 생명과학과
, 이화여자대학교 의과대학 병리학교실
- Abstract
- Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes;
Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor
neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been
reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To
our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient. Key Words: BSCL2, Distal hereditary motor neuropathy, Exome
Keywords :
- 초록
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