Article
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Annals of clinical and translational neurology - 1 May 2022
Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Kitao Ruriko, Morimoto Takehiko, Taniguchi Takaki, Takeuchi Mika, Takei Jun, Hiramatsu Yu, Sakiyama Yusuke, Hashiguchi Akihiro, Okamoto Yuji, Mitsui Jun, Ishiura Hiroyuki, Tsuji Shoji, Takashima Hiroshi
Abstract excerpt
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 neuropathy. METHODS: We performed whole-exome sequencing (WES) of DNA samples from 804 Charcot-Marie-Tooth (CMT) cases that could...
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