Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene
Journal of the Korean Neurological Association
; : 333-336, 2012.
Article
in Ko
| WPRIM
| ID: wpr-213035
Responsible library:
WPRO
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
Full text:
1
Index:
WPRIM
Main subject:
Silver
/
Spastic Paraplegia, Hereditary
/
Gait Disorders, Neurologic
/
Lipodystrophy, Congenital Generalized
/
Exome
/
Hand
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Neurological Association
Year:
2012
Type:
Article