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Article

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.

Muscle & nerve - 1 Apr 2010

Schneider-Gold Christiane, Kötting Judith, Epplen Jörg T, Gold Ralf, Gerding Wanda M

Abstract excerpt

Myelin protein zero (MPZ/P0) constitutes a major component of compact peripheral myelin. We report a family with a missense mutation, c.700G>T p.Asp234Tyr (deviant nomenclature: c.670G>T, p.Asp224Tyr), within the intracellular domain of myelin protein zero, who has distal sensorimotor symptoms, cramps, restless legs syndrome, neuropathic pain, and carpal tunnel syndrome. The index patient responded to intravenous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19882637
DOI: 10.1002/mus.21523

Genes

MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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