Associated Papers
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2024
38179633 (PubMed )
Supplement: jcn-20-59-s001.pdf
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
Merico E et al.
Acta Neurologica Belgica, 2023
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
GJB1 Mutation-A Disease Spectrum: Report of Case Series.
Niu J et al.
Frontiers in Neurology, 2019
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY et al.
Chinese Medical Journal, 2017
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
Sun B et al.
Chinese Medical Journal, 2016
[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].
Liu X et al.
Zhonghua Nei Ke Za Zhi, 2015
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
Qiao XH et al.
Zhonghua Yi Xue Za Zhi, 2009
[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].
Luo W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.
Da Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000
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