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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...

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PMID: 1301995
DOI: 10.1038/ng0492-29

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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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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 ↗

De novo mutation of Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Semantic proximity Read ↗

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

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

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.Semantic proximity Read ↗

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