Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

Xinran Ma,Xiaoxuan Liu,Xiaohui Duan,Dongsheng Fan

Frontiers in neurology（2023）

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摘要

Consistent with observations in other countries and ethnic groups, -related CMT is rare in China. The clinical spectrum is wider than previously anticipated.

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关键词

Charcot-Marie-Tooth disease, periaxin, mutation, whole-exome sequencing, next-generation sequencing

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