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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2006

Szigeti Kinga, Garcia Carlos A, Lupski James R

Abstract excerpt

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...

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Source

Identifiers

PMID: 16481890
DOI: 10.1097/01.gim.0000200160.29385.73

Genes

GJB1
PMP22
MFN2
MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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