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Article

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.

Journal of neuroscience research - 1 Apr 1994

Hanemann C O, Stoll G, D'Urso D, Fricke W, Martin J J, Van Broeckhoven C, Mancardi G L, Bartke I, Müller H W

Abstract excerpt

Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type 1a (CMT1a) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22 is duplicated in CMT1a patients. A gene dosage mechanism has been postulated to cause CMT1a. According to this...

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Source

Identifiers

PMID: 8028042
DOI: 10.1002/jnr.490370513

Genes

PMP22

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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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Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.PMID 8028042Read ↗

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Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.Semantic proximity Read ↗

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1ASemantic proximity Read ↗

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1ASemantic proximity Read ↗

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The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1ASemantic proximity Read ↗

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