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Charcot-Marie-Tooth disease type 1X (CMTX)

Genetics: - defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1 - 2 families with point mutation, one with frameshift mutation described [1] Laboratory: - GJB1 genotyping

Database Correlations

OMIM 302800

References

  1. Bruzzone et al. Neuron 13:1253-60 1994