New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

@article{Himoro1993NewMO,
  title={New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.},
  author={Masato Himoro and Hiroshi Yoshikawa and Takashi Matsui and Yoshinori Mitsui and Masateru Takahashi and Masanori Kaido and Takeshi Himeji-shi Nishimura and Yukio Sawaishi and Goro Takada and Kiyoshi Hayasaka},
  journal={Biochemistry and molecular biology international},
  year={1993},
  volume={31 1},
  pages={
          169-73
        }
}
P0, the major structural protein of peripheral myelin, is a homophilic adhesion molecule with a single immunoglobulin (Ig) domain, which contains a single N-linked glycosylation site and two cysteines. We have previously reported four different mutations of the myelin P0 gene in four families of Charcot-Marie-Tooth neuropathy type 1 (CMT1). In this study we found a new mutation of the myelin P0 gene in a small family of CMT1. The affected persons had an A - to - G substitution of nucleotide 245… CONTINUE READING

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