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Article

[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].

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

Guo Xuan, Zhao Zhe, Shen Hongrui, Bing Qi, Xie Shi, Hu Jing

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles. METHODS: Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing. RESULTS: Genetic testing revealed that the patient has harbored a heterozygous c.730G>C (p.D244H) variant of Calsequestrin 1 (CASQ1) gene. The same...

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PMID: 38818562
DOI: 10.3760/cma.j.cn511374-20211229-01023

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