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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2017
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697682/
https://www.ncbi.nlm.nih.gov/pubmed/28660751
http://dx.doi.org/10.1111/jns.12228

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