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Article

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.

Current opinion in neurology - 1 Oct 1996

Pareyson D, Taroni F

Abstract excerpt

Deletion of the 1.5 Mb tract on chromosome 17p11.2-12 that is duplicated in Charcot-Marie-Tooth disease type 1A is commonly associated with hereditary neuropathy with liability to pressure palsies. The deletion, which originates from an unequal meiotic crossover involving two homologous repeats,...

Topics

Animals
Chromosomes, Human, Pair 17
Genotype
Hereditary Sensory and Motor Neuropathy
Humans
Mice
Mice, Knockout
Molecular Biology
Myelin Proteins
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8894410
DOI: 10.1097/00019052-199610000-00006

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8894410-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.PMID 8894410Read ↗

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

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

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A 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 ↗

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 ↗

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

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.Semantic proximity Read ↗

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.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 ↗

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.Semantic proximity Read ↗

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