Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

  title={Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy},
  author={Kazuki Kijima and Chikahiko Numakura and Tomohide Goto and Takao Takahashi and Tesshu Otagiri and Kazuo Umetsu and Kiyoshi Hayasaka},
  journal={Journal of Human Genetics},
AbstractHeat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein 22 (HSP22) is a molecular counterpart of HSP27, and its mutation is another cause of distal HMN. We screened… CONTINUE READING


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