De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

@article{Hayasaka1993DeNM,
  title={De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)},
  author={Kiyoshi Hayasaka and Masato Himoro and Yukio Sawaishi and Kenji Nanao and Tsutomu Takahashi and Goro Takada and Garth A. Nicholson and Robert A. Ouvrier and Nobutada Tachi},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={266-268}
}
We have investigated the myelin Po gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine–Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred… Expand
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TLDR
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TLDR
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TLDR
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