A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodystrophy, which is characterized by hypomyelination, hypodont...

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Detalles Bibliográficos
Autores principales: Xue, Yan-Yan, Cheng, Hao-Ling, Dong, Hai-Lin, Yin, Hou-Min, Yuan, Yun, Meng, Ling-Chao, Wu, Zhi-Ying, Yu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527611/
https://www.ncbi.nlm.nih.gov/pubmed/34666706
http://dx.doi.org/10.1186/s12883-021-02399-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527611/
https://www.ncbi.nlm.nih.gov/pubmed/34666706
http://dx.doi.org/10.1186/s12883-021-02399-y

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