J Korean Assoc EMG Electrodiagn Med Search


J Korean Assoc EMG Electrodiagn Med 2013;15(1):11-19.
Published online June 1, 2013.
Frequency of Causative Genes in Korean Hereditary Peripheral Neuropathy Patients
Received: 7 March 2013   • Revised: 21 May 2013   • Accepted: 21 May 2013
Objectives: Hereditary peripheral neuropathy (HPN) is the most common inherited neuropathy and a genetically and clinically heterogeneous disorder. HPN consists of hereditary motor and sensory neuropathy [HMSN, also called as Charcot-Marie-Tooth disease (CMT)], distal hereditary motor neuropathy (dHMN), hereditary sensory neuropathy (HSN), and hereditary neuropathy with a liability to pressure palsy (HNPP). More than 60 genes have been identified as HPN causative genes. Methods: We analyzed genetic causes from 581 Korean inherited peripheral neuropathy families to determine the frequencies according to each subtype or genetic cause within this clinic population. Results: We identified 18 causative CMT genes (BSCL2, EGR2, GARS, GDAP1, GJB1, HSPB1, HSPB8, MFN2, MPZ, MYH14, NEFL, PMP22, PRPS1, PRX, SBF1, SPTLC1, TFG, and TUBB3) from 316 unrelated families (54.5%). The most frequent genetic cause was PMP22 duplication/deletion, which causes CMT1A/HNPP, and the next is GJB1 mutation causing CMTX1. Conclusion: Although genetic causes have not been determined in many cases, this study revealed that genetic background of HPN in Koreans is considerablely different from other ethnic groups. This study will be useful for development of exact molecular diagnostic tools for HPN.
Share :
Facebook Twitter Linked In Google+ Line it
METRICS Graph View
  • 682 View
  • 2 Download
Related articles in J Korean Assoc EMG Electrodiagn Med


Browse all articles >

Editorial Office
Department of Physical Medicine and Rehabilitation, Korea University Ansan Hospital
123 Jeokgeum-ro, Danwon-gu, Ansan 15355, Korea
Tel: +82-31-412-5330    Fax: +82-31-412-4215    E-mail: editjend@gmail.com                

Copyright © 2024 by Korean Association of EMG Electrodiagnostic Medicine.

Developed in M2PI

Close layer
prev next