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Article

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.

Journal of the neurological sciences - 1 Apr 1998

Tachi N, Kozuka N, Ohya K, Chiba S, Yamashita S

Abstract excerpt

We present a male patient with Dejerine-Sottas disease phenotype, who had a small direct tandem duplication of the Po gene. The pathology of the sural nerve showed hypomyelinated fibers with absence of active demyelination and onion-bulb formations composed of two parallel layers of basement membrane, consistent with congenital hypomyelination neuropathy (CHN). However, his clinical features were more severe than...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hereditary Sensory and Motor Neuropathy

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Source

Identifiers

PMID: 9588852
DOI: 10.1016/s0022-510x(98)00028-8

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→

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A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.PMID 9588852Read ↗

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.Semantic proximity Read ↗

Congenital hypomyelination due to myelin protein zero Q215X mutation.Semantic proximity Read ↗

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.Semantic proximity Read ↗

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.Semantic proximity Read ↗

De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.Semantic proximity Read ↗

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.Semantic proximity Read ↗

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.Semantic proximity Read ↗

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Semantic proximity Read ↗

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.Semantic proximity Read ↗

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.Semantic proximity Read ↗

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.Semantic proximity Read ↗

Rare myelin protein zero sequence variant in late onset CMT1B.Semantic proximity Read ↗

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