• Title/Summary/Keyword: BSCL2

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Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene (BSCL2유전자의 N88S돌연변이가 확인된 제5형 원위유전운동신경병증(dHMN-V))

  • Chung, Hwa Kyoung;Chung, Ki Wha;Park, Jin-Mo;Koo, Hye soo;Choi, Kyoung-Gyu;Park, Kee Duk;Choi, Byung-Ok
    • Journal of the Korean neurological association
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    • v.30 no.4
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    • pp.333-336
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    • 2012

  • 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.