Molecular diagnostics of CMT and related neuropathies

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Neuromolecular Med. 2006;8(1-2):243-54. Related Articles, Links

Molecular diagnostics of charcot-marie-tooth disease and related

peripheral neuropathies.

Szigeti K, Nelis E, Lupski JR.

Departments of Molecular and Human Genetics, Baylor College of

Medicine, Houston, TX; and Pediatrics, Baylor College of Medicine,

and Texas Children Hospital, Houston, TX 77030.

DNA diagnostics plays an important role in the characterization and

management of patients manifesting inherited peripheral 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.