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[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].

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

Zhang Yuxin, Xia Yanjie, Wu Qinghua, Ren Yilin, Kong Xiangdong, Sheng Guangyao

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK). METHODS: Next-generation sequencing (muscular dystrophy related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents. RESULTS: The child was found to harbor compound heterozygous variants of the FKTN gene, including a missense...

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PMID: 35810429
DOI: 10.3760/cma.j.cn511374-20210207-00119

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