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. 1996 May;33(5):413–415. doi: 10.1136/jmg.33.5.413

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

A Oterino 1, F I Montón 1, V M Cabrera 1, F Pinto 1, A Gonzalez 1, N R Lavilla 1
PMCID: PMC1050613  PMID: 8733054

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.

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Selected References

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