Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene
Journal of the Korean Neurological Association
;
: 333-336, 2012.
Artículo
en Coreano
| WPRIM
| ID: wpr-213035
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Plata
/
Paraplejía Espástica Hereditaria
/
Trastornos Neurológicos de la Marcha
/
Lipodistrofia Generalizada Congénita
/
Exoma
/
Mano
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2012
Tipo del documento:
Artículo
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