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Article

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.

Acta neurologica Scandinavica - 1 Sept 2004

Marques W, Neto J M Pina, Barreira A A

Abstract excerpt

OBJECTIVE: To describe a patient with the Dejerine-Sottas' syndrome due to a de novo Ser72Leu amino acid substitution in the PMP22 protein and summarize the phenotype associated with this frequent mutation. CASE REPORT: The proband has a medical history of early onset, severe, and progressive demyelinating neuropathy, accompanied by mild ptosis and limitations of eye movements. Ulnar nerve motor conduction...

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Source

Identifiers

PMID: 15285778
DOI: 10.1111/j.1600-0404.2004.00295.x

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→

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Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.PMID 15285778Read ↗

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

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

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The PMP22 gene and its related diseases.Semantic proximity Read ↗

Variable phenotypes are associated with PMP22 missense mutations.Semantic proximity Read ↗

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