Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

@article{Warner1999FunctionalCO,
  title={Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.},
  author={Laura E. Warner and John Svaren and Jeffrey D. Milbrandt and James R Lupski},
  journal={Human molecular genetics},
  year={1999},
  volume={8 7},
  pages={1245-51}
}
The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells at an early stage of differentiation. Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie… CONTINUE READING

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Novel missense mutation in the ea growth response 2 gene associated with a Dejerine – Sottas syndr phenotype

  • V. Timmerman, P. De Jonghe, +8 authors C. Van Broeckhoven
  • Neurology
  • 1999

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