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[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Zheng Weirong, Peng Xiaoyan, Lei Yuqing, Wang Liwen, Wang Xinrui, Zhao Qianqian

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Nemaline myopathy (NM). METHODS: A child who had visited Fujian Children's Hospital on January 28, 2023 due to "phlegm in the throat for more than a month" was selected as the study subject. Clinical data of the child was collected, in addition with peripheral blood samples from her and her parents. Following extraction of genomic DNA, trio-whole exome...

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PMID: 39653354
DOI: 10.3760/cma.j.cn511374-20240620-00343

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