Article
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Journal of the peripheral nervous system : JPNS - 1 Sept 2017
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
Abstract excerpt
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 analyzed 1,334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Female
- GTP Phosphohydrolases
- Genetic Variation