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Article

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

Folia neuropathologica - 1 Jan 1999

Jedrzejowska H, Fidziańska A, Kochański A

Abstract excerpt

A 16-year-old girl with a typical features of hereditary neuropathy with liability to pressure palsies (HNPP) and deletion on chromosome 17p11.2 was described. In the mother who was asymptomatic the same genetic defect was found. In a sural nerve biopsy obtained from the girl myelin thickenings characteristic for this disease and de- and remyelination in nerve fibers were found. Special attention was paid to the...

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Identifiers

PMID: 10705641

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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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Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion.PMID 10705641Read ↗

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

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

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

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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 ↗

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).Semantic proximity Read ↗

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