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学科主题基础医学
A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance
Li, Fei-Feng1,2; Li, Qian-Qian3; Tan, Zhen-Xuan1,2; Zhang, Si-Yao1,2; Liu, Ji1,2; Zhao, Er-ying1,2; Yu, Gui-Chun3; Zhou, Jin1; Zhang, Li-Ming3; Liu, Shu-Lin1,2,4,5
关键词Hypokalemic periodic paralysis Gene mapping Mutation CACNA1S Gender difference Penetrance
刊名JOURNAL OF MOLECULAR NEUROSCIENCE
2012-02-01
DOI10.1007/s12031-011-9596-1
46期:2页:378-383
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Neurosciences
研究领域[WOS]Biochemistry & Molecular Biology ; Neurosciences & Neurology
关键词[WOS]GENOTYPE-PHENOTYPE CORRELATIONS ; DIHYDROPYRIDINE RECEPTOR ; SKELETAL-MUSCLE ; FAMILY ; MIRP2-R83H ; CHANNELS
英文摘要

Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. Several mutations in the skeletal muscle calcium channel alpha-subunit gene CACNA1S have been documented to be causative for HypoPP, but mutations in other genes have also been implicated in HypoPP. To further reveal the genetic causes of HypoPP, we genotyped members of a five-generational Chinese family with HypoPP patients and identified a novel His916Gln mutation in all male HypoPP patients of the family. Clinical analysis demonstrated that the penetrance of the mutation was complete in male carriers, but we did not find evident clinical features in female carriers. This study expanded the spectrum of CACNA1S mutations associated with HypoPP and demonstrated a gender difference in the penetrance of the disease.

语种英语
WOS记录号WOS:000300345100016
项目编号NSFC30870098 ; 30970119 ; 81030029 ; 20092307110001
资助机构Harbin Medical University ; National Natural Science Foundation of China ; Specialized Research Fund for the Doctoral Program of Higher Education (SRFDP)
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58980
专题北京大学基础医学院_病原生物学系
作者单位1.Harbin Med Coll, Genet Detect Ctr, Harbin, Peoples R China
2.Harbin Med Coll, Genom Res Ctr, Harbin, Peoples R China
3.Univ Calgary, Dept Microbiol & Infect Dis, Calgary, AB, Canada
4.Harbin Med Coll, Affiliated Hosp 1, Dept Neurol, Harbin, Peoples R China
5.Peking Univ, Hlth Sci Ctr, Dept Microbiol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Li, Fei-Feng,Li, Qian-Qian,Tan, Zhen-Xuan,et al. A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance[J]. JOURNAL OF MOLECULAR NEUROSCIENCE,2012,46(2):378-383.
APA Li, Fei-Feng.,Li, Qian-Qian.,Tan, Zhen-Xuan.,Zhang, Si-Yao.,Liu, Ji.,...&Liu, Shu-Lin.(2012).A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance.JOURNAL OF MOLECULAR NEUROSCIENCE,46(2),378-383.
MLA Li, Fei-Feng,et al."A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance".JOURNAL OF MOLECULAR NEUROSCIENCE 46.2(2012):378-383.
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