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Article

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

BMC neurology - 20 Oct 2021

Xue Yan-Yan, Cheng Hao-Ling, Dong Hai-Lin, Yin Hou-Min, Yuan Yun, Meng Ling-Chao, Wu Zhi-Ying, Yu Hao

Abstract excerpt

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, hypodontia, and hypogonadotropic hypogonadism. To date, only one study has reported the demyelinating peripheral neuropathy...

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Identifiers

PMID: 34666706
DOI: 10.1186/s12883-021-02399-y
PMCID: PMC8527611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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