Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan

Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan

Abstract Background Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predominantly demyelinating sensorimotor peripheral neuropa...

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Bibliographic Details
Main Authors: Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51555

Internet

https://doi.org/10.1002/acn3.51555

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