Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

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成果类型：

期刊论文

作者：

Zhao, Chenyu;Tang, DongFang;Huang, Hui;Tang, Haiyan;Yang, Yuan;...

通讯作者：

Shi, XL;Zhou, X

作者机构：

[Yang, Yuan; Zhao, Chenyu; Shi, Xiaoliu; Huang, Hui; Tang, Haiyan] Cent South Univ, Xiangya Hosp 2, Dept Med Genet, Changsha, Hunan, Peoples R China.

[Zhao, Chenyu] Cent South Univ, Xiangya Hosp 2, Dept Gastroenterol, Changsha, Hunan, Peoples R China.

[Tang, DongFang; Zhou, Xi] Hunan Normal Univ, Natl & Local Joint Engn Lab Anim Peptide Drug Dev, Coll Life Sci, Changsha, Hunan, Peoples R China.

[Yang, Yuan] Peking Univ Canc Hosp & Inst, Minist Educ, Intens Care Unit, Key Lab Carcinogenesis & Translat Res, Beijing, Peoples R China.

[Yang, Min] Cent South Univ, Xiangya Hosp 2, Dept Rehabil, Changsha, Hunan, Peoples R China.

通讯机构：

[Zhou, X ] H

[Shi, XL ] C

Cent South Univ, Xiangya Hosp 2, Dept Med Genet, Changsha, Hunan, Peoples R China.

Hunan Normal Univ, Natl & Local Joint Engn Lab Anim Peptide Drug Dev, Coll Life Sci, Changsha, Hunan, Peoples R China.

语种：

英文

期刊：

PLOS ONE

ISSN：

1932-6203

年：

2020

卷：

期：

页码：

e0233017

DOI：

10.1371/journal.pone.0233017

基金类别：

China Hunan Provincial Science & Technology Department, Development and Reform Commission of Hunan Province [2016JC2045]

机构署名：

本校为其他机构

摘要：

Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. Here, we describe a patient with myotonia and periodic paralysis in a consanguineous marriage pedigree. By using whole-exome sequencing, a novel F306S variant in the CLCN1 gene and a known R222W mutation in the SCN4A ge...

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Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

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