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学科主题临床医学
Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease
Chang, Xingzhi1; Jin, Yiwen1; Zhao, Haijuan1; Huang, Qionghui1; Wang, Jingmin1; Yuan, Yun2; Han, Ying1; Qin, Jiong1
关键词ryanodine receptor type 1 gene central core disease congenital myopathy malignant hyperthermia calcium release channel
刊名JOURNAL OF CHILD NEUROLOGY
2013-03-01
DOI10.1177/0883073812441251
28期:3页:384-388
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]TERMINAL TRANSMEMBRANE REGION ; RECESSIVE RYR1 MUTATIONS ; MALIGNANT HYPERTHERMIA ; MYOPATHIES ; MECHANISMS
英文摘要

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 electromyography suggested myogenic changes. The histologic analysis of muscle biopsy showed identical central core lesions in almost all of the muscle fibers in the index case. Exon 90-106 in the C-terminal domain of the ryanodine receptor type 1 gene was amplified using polymerase chain reaction. One heterozygous missense mutation G14678A (Arg4893Gln) in exon 102 was identified in all 3 patients. This is the first report of a familial case of central core disease confirmed by molecular study in mainland China.

语种英语
WOS记录号WOS:000317680100013
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58212
专题北京大学第一临床医学院_儿科
北京大学第二临床医学院_儿科
作者单位1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Chang, Xingzhi,Jin, Yiwen,Zhao, Haijuan,et al. Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease[J]. JOURNAL OF CHILD NEUROLOGY,2013,28(3):384-388.
APA Chang, Xingzhi.,Jin, Yiwen.,Zhao, Haijuan.,Huang, Qionghui.,Wang, Jingmin.,...&Qin, Jiong.(2013).Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease.JOURNAL OF CHILD NEUROLOGY,28(3),384-388.
MLA Chang, Xingzhi,et al."Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease".JOURNAL OF CHILD NEUROLOGY 28.3(2013):384-388.
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