Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

@article{Pareyson2009DiagnosisNH,
  title={Diagnosis, natural history, and management of Charcot–Marie–Tooth disease},
  author={Davide Pareyson and Chiara Marchesi},
  journal={The Lancet Neurology},
  year={2009},
  volume={8},
  pages={654-667}
}
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnostic approach requires careful assessment of clinical presentation and mode of inheritance, nerve-conduction studies, and DNA testing, and current research is focused on assessing natural history and finding effective treatments… CONTINUE READING
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