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学科主题: 基础医学
题名:
A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance
作者: 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
发表日期: 2012-02-01
DOI: 10.1007/s12031-011-9596-1
卷: 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
所属项目编号: NSFC30870098 ; 30970119 ; 81030029 ; 20092307110001
项目资助者: Harbin Medical University ; National Natural Science Foundation of China ; Specialized Research Fund for the Doctoral Program of Higher Education (SRFDP)
WOS记录号: WOS:000300345100016
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58980
Appears in Collections:基础医学院_病原生物学系_期刊论文

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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

Recommended Citation:
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.
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