Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

  title={Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies},
  author={Kinga Szigeti and Eva Nelis and James R Lupski},
  journal={NeuroMolecular Medicine},
DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheal neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies. 
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CharcotMarie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

  • K. Szigeti, C. Garcia, J R.Lupski
  • Genet. Med
  • 2006
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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary

  • E. Nelis, C. Van Broeckhoven, P De Jonghe
  • 1996
Highly Influential
5 Excerpts

Char - cot - Marie - Tooth disease type 1 A with 17 p 11 . 2 duplication . Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

  • N. Birouk, R. Gouider, E. LeGuern
  • Brain
  • 1997
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