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

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...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898366/
https://ncbi.nlm.nih.gov/pubmed/33179255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13881
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