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Article

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.

Acta neuropathologica - 1 May 2002

Matsuyama Wataru, Nakagawa Masanori, Takashima Hiroshi, Osame Mitsuhiro

Abstract excerpt

We previously reported familial cases characterized by Charcot-Marie-Tooth disease (CMT) phenotype with abnormal myelin foldings and MPZ Ile62Phe mutation. To further clarify the molecular mechanisms in this family, we produced wild-type MPZ, Ile62Phe mutant and other mutations in the neighboring regions producing thin myelin sheaths (Ser63del, Ser63Cys and Ser63Phe) by site-specific mutagenesis and transfected...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11935267
DOI: 10.1007/s00401-001-0497-1

Genes

MPZ

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.

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