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Article

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Clinical genetics - 1 Mar 2021

Taniguchi Takaki, Ando Masahiro, Okamoto Yuji, Yoshimura Akiko, Higuchi Yujiro, Hashiguchi Akihiro, Shiga Kensuke, Hayashida Arisa, Hatano Taku, Ishiura Hiroyuki, Mitsui Jun, Hattori Nobutaka, Mizuno Toshiki, Nakagawa Masanori, Tsuji Shoji, Takashima Hiroshi

Abstract excerpt

We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial...

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Source

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Identifiers

PMID: 33179255
DOI: 10.1111/cge.13881
PMCID: PMC7898366

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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