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Article

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Annals of neurology - 1 Mar 2011

Montenegro Gladys, Powell Eric, Huang Jia, Speziani Fiorella, Edwards Yvonne J K, Beecham Gary, Hulme William, Siskind Carly, Vance Jeffery, Shy Michael, Züchner Stephan

Abstract excerpt

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease comprises a large number of genetically distinct forms of inherited peripheral neuropathies. The relative uniform phenotypes in many patients with CMT make it difficult to decide which of the over 35 known CMT genes are affected in a given patient. Genetic testing decision trees are therefore broadly based on a small number of major subtypes (eg, CMT1, CMT2) and the...

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Identifiers

PMID: 21254193
DOI: 10.1002/ana.22235
PMCID: PMC3066289

Genes

GJB1

Provenance

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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