A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

@article{Kovach1999AUP,
  title={A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.},
  author={Margaret J Kovach and J. P. Lin and S I Boyadjiev and Kenneth Campbell and Letteria Mazzeo and Kristin C. Herman and L A Rimer and William Frank and Bryn Llewellyn and Ethylin Wang Jabs and David Gelber and Virginia Kimonis},
  journal={American journal of human genetics},
  year={1999},
  volume={64 6},
  pages={1580-93}
}
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individuals (31 affected, 28 unaffected, and 11 spouses) revealed linkage to markers on chromosome 17p11.2-p12… CONTINUE READING