Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease

@article{Otagiri2006PeriaxinMI,
  title={Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease},
  author={Tesshu Otagiri and Kenji Sugai and Kazuki Kijima and Hiroko Arai and Yukio Sawaishi and M. Shimohata and Kiyoshi Hayasaka},
  journal={Journal of Human Genetics},
  year={2006},
  volume={51},
  pages={625-628}
}
AbstractPeriaxin (PRX) plays an important role in the myelination of the peripheral nerve and consequently in the pathogenesis of Charcot-Marie-Tooth disease (CMT). To date, nine nonsense or frameshift PRX mutations have been reported in eight families with CMT. The patients with PRX mutations appeared to show characteristic clinical features with early onset but slow or no progression, a common result of mutations that lead to missing a C-terminal acidic domain. Here, we report a Japanese CMT… CONTINUE READING
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