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[Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease].

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

Dong Xiaoyun, Zheng Xuan, Lin Fatao, Feng Lei, Xiong Hong, Kang Wenqing

Abstract excerpt

OBJECTIVE: To investigate the possible causative factors of central core disease(CCD), the clinical features of a neonatal case with CCD and five patients in the pedigree line were analyzed for RYR1 gene variant. METHODS: Medical and family history inquiries and detailed clinical examinations were performed in the proband. High-throughput sequencing technology was applied to analyze the gene variant of the...

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Identifiers

PMID: 35773764
DOI: 10.3760/cma.j.cn511374-20210207-00118

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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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