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Article

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

Human genetics - 1 May 1996

Roa B B, Greenberg F, Gunaratne P, Sauer C M, Lubinsky M S, Kozma C, Meck J M, Magenis R E, Shaffer L G, Lupski J R

Abstract excerpt

Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and...

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Identifiers

PMID: 8655146

Genes

PMP22

Provenance

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

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Related research

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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.PMID 8655146Read ↗

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

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratorySemantic proximity Read ↗

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

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

Charcot-Marie-Tooth Disease and Related Inherited NeuropathiesSemantic proximity Read ↗

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

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.Semantic proximity Read ↗

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 GeneSemantic proximity Read ↗

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.Semantic proximity Read ↗

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