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Article

Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies.

Annals of neurology - 1 Dec 1997

Schenone A, Nobbio L, Caponnetto C, Abbruzzese M, Mandich P, Bellone E, Ajmar F, Gherardi G, Windebank A J, Mancardi G

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p11.2, which includes the gene for the peripheral myelin protein 22 (PMP-22). A "gene dosage" effect is probably the mechanism underlying HNPP, but the amount of PMP-22 mRNA in sural nerves of HNPP patients is highly variable and the role of PMP-22 underexpression in impairing myelination has yet to be...

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Identifiers

PMID: 9403478
DOI: 10.1002/ana.410420607

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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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Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies.PMID 9403478Read ↗

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Studies on the effects of altered PMP22 expression during myelination in vitroSemantic proximity Read ↗

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.Semantic proximity Read ↗

The PMP22 gene and its related diseases.Semantic proximity Read ↗

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.Semantic proximity Read ↗

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.Semantic proximity Read ↗

Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review.Semantic proximity Read ↗

Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

[Hereditary neuropathy with liability to pressure palsies caused by 17p11.2 chromosome deletion].Semantic proximity Read ↗

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.Semantic proximity Read ↗

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