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

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. MET...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082381/
https://www.ncbi.nlm.nih.gov/pubmed/35482004
http://dx.doi.org/10.1002/acn3.51555

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082381/
https://www.ncbi.nlm.nih.gov/pubmed/35482004
http://dx.doi.org/10.1002/acn3.51555

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