Molecular analysis in Japanese patients with Charcot‐Marie‐Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

@article{Numakura2002MolecularAI,
  title={Molecular analysis in Japanese patients with Charcot‐Marie‐Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations},
  author={Chikahiko Numakura and Changqing Lin and Tohru Ikegami and Per Guldberg and Kiyoshi Hayasaka},
  journal={Human Mutation},
  year={2002},
  volume={20}
}
Charcot‐Marie‐Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). Most CMT1 patients are associated with the duplication of 17p11.2‐p12 (CMT1A duplication) and small numbers of patients have mutations of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32/GJB1), and early growth response 2 (EGR2) genes. Some mutations of MPZ and Cx32 were also associated with the… Expand
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