Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

@article{Abe2011MolecularDA,
  title={Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan},
  author={Atsushi Abe and Chikahiko Numakura and Kazuki Kijima and Makiko Hayashi and Taeko Hashimoto and Kiyoshi Hayasaka},
  journal={Journal of Human Genetics},
  year={2011},
  volume={56},
  pages={364-368}
}
To study the genetic background of Japanese Charcot–Marie–Tooth disease (CMT) patients, we analyzed qualitative and quantitative changes in the disease-causing genes mainly by denaturing high performance liquid chromatography and multiplex ligation-dependent probe analysis in 227 patients with demyelinating CMT and 127 patients with axonal CMT. In demyelinating CMT, we identified 53 patients with PMP22 duplication, 10 patients with PMP22 mutations, 20 patients with MPZ mutations, eight patients… CONTINUE READING
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