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Article

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

Brain : a journal of neurology - 1 Jan 1997

Tyson J, Ellis D, Fairbrother U, King R H, Muntoni F, Jacobs J, Malcolm S, Harding A E, Thomas P K

Abstract excerpt

Nine cases are described of a demyelinating peripheral neuropathy that had an onset in infancy. The clinical features conformed to those of type III hereditary motor and sensory neuropathy or Dejerine-Sottas disease. All showed a severe neurological deficit and had profoundly reduced nerve conduction velocities. Amongst these cases we identified four novel point mutations in the peripheral myelin protein 22...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9055797
DOI: 10.1093/brain/120.1.47

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.PMID 9055797Read ↗

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

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.Semantic proximity Read ↗

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