Korean J Neuromuscul Disord Search

CLOSE


Korean Journal of Neuromuscular Disorders 2017;9(2):46-48.
C.1702C>T Nonsense Mutation in SPAST Gene in Family with Hereditary Spastic Paraplegia
Min-Ju Kim, Sa-Yoon Kang
Departments of 1Medicine and 2Neurology, Jeju National University School of Medicine, Jeju, Korea
유전강직하반신마비 가족에서 발견된 SPAST 유전자의 c.1702C>T 무의미돌연변이
김민주, 강사윤
제주대학교 의학전문대학원 1의학과, 2신경과학교실
Abstract
Hereditary spastic paraplegia is a heterogeneous group of genetic disorders in which the main feature is progressive spasticity and lower extremity weakness. A 37-year-old man presented with progressive gait disturbance and he had a family history consistent with autosomal dominant inheritance. Gene testing revealed a nonsense mutation (c.1702C>T [p.Arg562Term]) in SPAST gene. We report a first Korean family with Arg562Term mutation in SPAST gene.
TOOLS
Share :
Facebook Twitter Linked In Google+ Line it
METRICS Graph View
  • 226 View
  • 2 Download
Related articles in Korean J Neuromuscul Disord


ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
EDITORIAL POLICY
FOR CONTRIBUTORS
Editorial Office
Department of Neurology, Ilsan Paik Hospital, Inje University College of Medicine
170, Juhwa-ro, Ilsanseo-gu, Goyang-si, Gyeonggi-do, 10380 Korea
Tel: +82-31-910-7929    Fax: +82-31-910-7368    E-mail: joongyangcho@gmail.com                

Copyright © 2021 by Korean Society of Neuromuscular Disorders.

Developed in M2PI

Close layer
prev next