Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management

@article{Szigeti2006CharcotMarieToothDA,
  title={Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management},
  author={Kinga Szigeti and C. A. Mendoza Garc{\'i}a and James R Lupski},
  journal={Genetics in Medicine},
  year={2006},
  volume={8},
  pages={86-92}
}
Purpose: An evidence-based approach was used to determine the frequency distribution of genes contributing to the Charcot-Marie-Tooth (CMT) disease phenotype.Methods: We performed a combined analysis of 11 population-based studies from various ethnic backgrounds to generate an evidence-based testing scheme. To estimate the relative frequencies of the responsible genes for which population-based studies are not available, we used our cohort of clinically classified patients with CMT and related… CONTINUE READING