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Article

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

Neurology - 1 Apr 1996

Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is commonly associated with a 1.5-megabase deletion on chromosome 17p11.2-12. We analyzed the phenotypic expression of the deletion in 39 HNPP patients from 16 families carrying the deletion. Two-thirds of the individuals had episode...

Topics

Adolescent
Adult
Aged
Chromosomes, Human, Pair 17
Electrophysiology
Female
Gene Deletion
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paralysis

Phenotype

Pressure

Source

Identifiers

PMID: 8780105
DOI: 10.1212/wnl.46.4.1133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8780105-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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