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Article

Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers.

The International journal of neuroscience - 1 Nov 2007

Koç Filiz, Güzel Ali Irfan, Sarica Yakup, Kasap Halil

Abstract excerpt

Charcot-Marie-Tooth (CMT) is a common inherited peripheral neuropathy with a prevalence of 1 in 2,500. CMT has two distinct forms (CMT1 and CMT2) that can be identified electrophysiologically. A 1.5 Mb tandem microduplication including peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2-12 causes CMT1A. The increased gene dosage effect of PMP22 is thought to be responsible for the pathogenesis of...

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Identifiers

PMID: 17917930
DOI: 10.1080/00207450601050089

Genes

PMP22

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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