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Article

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

Nature genetics - 1 Apr 1992

Lupski J R, Wise C A, Kuwano A, Pentao L, Parke J T, Glaze D G, Ledbetter D H, Greenberg F, Patel P I

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV. Molecular...

Topics

Charcot-Marie-Tooth Disease
Child, Preschool
Chromosomes, Human, Pair 17
DNA
Female
Humans
In Situ Hybridization, Fluorescence
Male
Multigene Family
Neural Conduction
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1301995
DOI: 10.1038/ng0492-29

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301995-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.PMID 1301995Read ↗

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.Semantic proximity Read ↗

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.Semantic proximity Read ↗

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.Semantic proximity Read ↗

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.Semantic proximity Read ↗

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Semantic proximity Read ↗

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