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Article

Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.

Molecular genetics & genomic medicine - 1 Jun 2021

Kim Hye Jin, Nam Soo Hyun, Kwon Hye Mi, Lim Si On, Park Jae Hong, Kim Hyun Su, Kim Sang Beom, Lee Kyung Suk, Lee Ji Eun, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelinating, axonal, and intermediate neuropathies. Mutations in myelin protein zero (MPZ) gene which encodes a transmembrane protein of the Schwann cells as a major component of peripheral myelin have...

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Identifiers

PMID: 33825325
DOI: 10.1002/mgg3.1678
PMCID: PMC8222852

Genes

MPZ

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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