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Article

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

Neuromolecular medicine - 1 Jan 2006

Szigeti Kinga, Nelis Eva, Lupski James R

Abstract excerpt

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...

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Identifiers

PMID: 16775379
DOI: 10.1385/nmm:8:1-2:243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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