Article
[Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021
Zhao Ding, Li Rui, Zhao Bojie, Kong Jinghui, Chen Chongfen, Song Jijun
Abstract excerpt
OBJECTIVE: To explore the genetic basis of a pedigree affected with peroneal muscular atrophy. METHODS: Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of...
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