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[Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene].

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

Liu Shanshan, Mao Shuting, Li Bai, Wei Linlin, Liu Yufeng

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Central core disease (CCD). METHODS: A child with CCD who was treated at the Children's Hematology Department of the First Affiliated Hospital of Zhengzhou University in February 2022 was selected as the study subject. Muscle biopsy was performed. Peripheral blood samples were collected from the child and his parents for the...

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PMID: 38684305
DOI: 10.3760/cma.j.cn511374-20230418-00216

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