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Article

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.

CNS neuroscience & therapeutics - 1 Dec 2022

Chen Xihui, Liu Fangfang, Chen Kun, Wang Yufeng, Yin Anan, Kang Xiaowei, Yang Shanming, Zhao Hanwen, Dong Songqi, Li Yunqing, Chen Jing, Wu Yuanming

Abstract excerpt

AIMS: TFG-related axonal Charcot-Marie-Tooth (CMT) disease is a late-onset, autosomal dominant, hereditary motor, and sensory neuropathy characterized by slowly progressive weakness and atrophy of the distal muscles. The objective of this study was to determine the common pathogenic mechanism of TFG-related CMT type 2 (CMT2) caused by different mutations and establish a direct association between TFG...

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Identifiers

PMID: 35986567
DOI: 10.1111/cns.13943
PMCID: PMC9627391

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