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Article

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

Neuromuscular disorders : NMD - 1 May 2001

Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin J J, Timmerman V, Van Broeckhoven C, De Jonghe P

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or compression at entrapment sites of peripheral nerves. In the majority of the patients, HNPP is caused by a 1.5 Mb deletion on chromosome 17p11.2-p12 containing the peripheral myelin protein 22...

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Source

Identifiers

PMID: 11369192
DOI: 10.1016/s0960-8966(00)00214-5

Genes

PMP22

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.PMID 11369192Read ↗

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.Semantic proximity Read ↗

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.Semantic proximity Read ↗

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 ↗

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

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

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

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.Semantic proximity Read ↗

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

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.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 palsy: a brief review with a case report.Semantic proximity Read ↗

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