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Article

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

Human mutation - 1 Jan 1998

Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez J J, Prieto F, Palau F

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Sensory and Motor Neuropathy

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Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9452053
DOI: 10.1002/humu.1380110132

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.PMID 9452053Read ↗

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

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

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

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

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

Many facets of the peripheral myelin protein PMP22 in myelination and disease.Semantic proximity Read ↗

Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review.Semantic proximity Read ↗

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.Semantic proximity Read ↗

Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).Semantic proximity Read ↗

[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1].Semantic proximity Read ↗

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

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