Article
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
Experimental & molecular medicine - 30 Jun 2008
Chung Ki Wha, Kim Sang-Beom, Cho Sun Young, Hwang Su Jin, Park Sun Wha, Kang Sung Hee, Kim Joonki, Yoo Jeong Hyun, Choi Byung-Ok
Abstract excerpt
Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F (CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a large Korean dHMN type II family with...
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