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One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

BACKGROUND AND AIMS: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation. AIMS AND METHODS: To explore the existence of concomitant variants in...

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Detalles Bibliográficos
Autores principales:	Xie, Yongzhi, Lin, Zhiqiang, Li, Xiaobo, Liu, Lei, Huang, Shunxiang, Zhao, Huadong, Wang, Binghao, Cao, Wanqian, Hu, Zhengmao, Guo, Jifeng, Shen, Lu, Tang, Beisha, Zhang, Ruxu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831722/ https://www.ncbi.nlm.nih.gov/pubmed/35153971 http://dx.doi.org/10.3389/fneur.2021.736704

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