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Article

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.

Muscle & nerve - 1 Feb 2004

Li Jun, Krajewski Karen, Lewis Richard A, Shy Michael E

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) provides a human model to investigate the role of PMP22 in myelinated peripheral nerve, since the disease is caused by a deletion of one of the two PMP22 alleles. To systematically characterize the phenotype of HNPP, we prospectively evaluated the clinical features and electrophysiological findings in 17 genetically confirmed patients, 7 men and 10...

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Source

Identifiers

PMID: 14755484
DOI: 10.1002/mus.10521

Genes

PMP22

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.PMID 14755484Read ↗

Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history.Semantic proximity Read ↗

Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.Semantic proximity Read ↗

[Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].Semantic proximity Read ↗

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.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 ↗

Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies.Semantic proximity Read ↗

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.Semantic proximity Read ↗

Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation.Semantic proximity Read ↗

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.Semantic proximity Read ↗

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