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Research Article
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
  1. A Oterino,
  2. F I Montón,
  3. V M Cabrera,
  4. F Pinto,
  5. A Gonzalez,
  6. N R Lavilla
  1. Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain.

    Abstract

    A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

    https://doi.org/10.1136/jmg.33.5.413

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