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Article

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 1999

Fabrizi G M, Cavallaro T, Morbin M, Simonati A, Taioli F, Rizzuto N

Abstract excerpt

A patient is described with a Déjérine-Sottas syndrome caused by a novel heterozygous Cys(98)Tyr mutation in the extracellular domain of the major peripheral myelin protein zero (P0ex). Homotypical interactions between P0ex tetramers of apposed extracellular faces of the Schwann cell membrane play a crucial part in myelin compaction. The amino acid change disrupts a unique disulphide bond that stabilises the...

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Source

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Identifiers

PMID: 10084540
DOI: 10.1136/jnnp.66.3.386
PMCID: PMC1736254

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Source receipt: pubmed, retrieved 7 Sept 2026.

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