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[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Yang Yanan, Ye Shuxin, Lyu Yuqiang, Xin Hongmei, Gao Min, Ma Jian, Wang Dong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child suspected for peroneal muscular atrophy. METHODS: The child and his parents were analyzed by using next generation sequencing. RESULTS: The child was found to harbor compound heterozygous variants of c.52G>T (p.Glu18X) and c.1390C>T (p.Arg464X) of the PRX gene, which were inherited from his father and mother, respectively. Among these, the c.52G>T variant was...

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PMID: 35810435
DOI: 10.3760/cma.j.cn511374-20210311-00221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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