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Article

Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

Journal of child neurology - 1 Mar 2013

Chang Xingzhi, Jin Yiwen, Zhao Haijuan, Huang Qionghui, Wang Jingmin, Yuan Yun, Han Ying, Qin Jiong

Abstract excerpt

Central core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor type 1 gene. The clinical phenotype of the disease is highly variable. We report a Chinese pedigree with central core disease confirmed by the gene sequencing. All 3 patients in the family presented with mild proximal limb weakness. The serum level of creatine kinase was normal, and...

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Identifiers

PMID: 22550088
DOI: 10.1177/0883073812441251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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