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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發表在: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
格式: Artigo
語言:Inglês
出版: Wiley Periodicals, Inc. 2017
主題:
Research Reports
在線閱讀: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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