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Article

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.

Neurology - 22 Jan 2008

Lee Y C, Yu C T R, Lin K P, Chang M H, Hsu S L, Liu Y F, Lu Y C, Soong B W

Abstract excerpt

OBJECTIVES: To characterize the clinical and cellular phenotypes of a novel MPZ mutation identified in a Chinese family with Charcot-Marie-Tooth (CMT) disease type 1B. METHODS: The family was evaluated clinically, electrophysiologically, pathologically, and genetically. The wild-type and mutant P...

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Source

Identifiers

PMID: 18209201
DOI: 10.1212/01.wnl.0000296828.66915.bf

Genes

MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18209201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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