Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

Human mutation - 1 Jan 1995

Valentijn L J, Ouvrier R A, van den Bosch N H, Bolhuis P A, Baas F, Nicholson G A

Abstract excerpt

We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C85-->A that results in an amino acid substitution His12Gln in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence
Share to Child

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

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7728152
DOI: 10.1002/humu.1380050110

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.PMID 7728152Read ↗

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.Semantic proximity Read ↗

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.Semantic proximity Read ↗

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.Semantic proximity Read ↗

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

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.Semantic proximity Read ↗

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

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.Semantic proximity Read ↗

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Semantic proximity Read ↗

De novo mutation of Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).Semantic proximity Read ↗

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.