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Article

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.

Human genetics - 1 Feb 1994

Mariman E C, Gabreëls-Festen A A, van Beersum S E, Jongen P J, van de Looij E, Baas F, Bolhuis P A, Ropers H H, Gabreëls F J

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion corresponds to the duplication that is commonly observed in patients with hereditary motor and sensory neuropathy type Ia (HMSNIa, 17p11.2-p12). Therefore, the gene for peripheral myelin protein 22 (PMP-22) is...

Topics

Base Sequence
Chromosome Deletion
Chromosomes, Human, Pair 17
DNA
DNA Primers
Electrophoresis, Polyacrylamide Gel
Female
Genetic Linkage
Genetic Markers
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hereditary Sensory and Motor Neuropathy

Humans

Male

Molecular Sequence Data

Multigene Family

Myelin Proteins

Pedigree

Peripheral Nervous System Diseases

Source

Identifiers

PMID: 8112739
DOI: 10.1007/BF00210601

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8112739-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.PMID 8112739Read ↗

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

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

Hereditary neuropathy with liability to pressure palsy.Semantic proximity Read ↗

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

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].Semantic proximity Read ↗

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

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

Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.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 ↗

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion.Semantic proximity Read ↗

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