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

Neurologia i neurochirurgia polska - 1 Jan 2000

Dorobek M, Szmidt-Sałkowska E, Drac H, Hardin A, Kwieciński H

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterised by recurrent mononeuropathies. Electrophysiological studies reveal slowed conduction velocity in peripheral nerves. The main histopathological findings are focal thickenings of myelin-tomaculae. In most cases HNPP is associated with a deletion within PMP-22 (peripheral myelin protein; PMP) gene on...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10399735

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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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[Hereditary neuropathy with liability to pressure palsies caused by 17p11.2 chromosome deletion].PMID 10399735Read ↗

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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 ↗

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