EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

@article{Boerkoel2001EGR2MR,
  title={EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy},
  author={Cornelius F. Boerkoel and Hiroshi Takashima and Carlos A. Bacino and Donna L. Daentl and James R. Lupski},
  journal={Neurogenetics},
  year={2001},
  volume={3},
  pages={153-157}
}
Abstract. Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction… Expand
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