Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study

Charcot‐Marie‐Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We anal...

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Detalhes bibliográficos
Publicado no:J Peripher Nerv Syst
Main Authors: Ando, Masahiro, Hashiguchi, Akihiro, Okamoto, Yuji, Yoshimura, Akiko, Hiramatsu, Yu, Yuan, Junhui, Higuchi, Yujiro, Mitsui, Jun, Ishiura, Hiroyuki, Umemura, Ayako, Maruyama, Koichi, Matsushige, Takeshi, Morishita, Shinichi, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals, Inc. 2017
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5697682/
https://ncbi.nlm.nih.gov/pubmed/28660751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12228
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