Literature DB >> 19840739

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

Bradley Wakeman, Ian M MacDonald, Ieke Ginjaar, Jack Tarleton, Deepti Babu.   

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Year:  2009        PMID： 19840739     DOI： 10.1016/j.jaapos.2009.07.001

Source DB:  PubMed          Journal:  J AAPOS        ISSN： 1091-8531            Impact factor:   1.220


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  6 in total

Review 1.  Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Authors:  Xiao-li Liu; Xiao-jun Huang; Xing-hua Luan; Hai-yan Zhou; Tian Wang; Jing-yi Wang; Sheng-di Chen; Hui-dong Tang; Li Cao
Journal:  Channels (Austin)       Date:  2015       Impact factor: 2.581

2.  Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Authors:  Xinglong Yang; Hua Jia; Ran An; Jing Xi; Yanming Xu
Journal:  Channels (Austin)       Date:  2016-07-14       Impact factor: 2.581

3.  Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.

Authors:  Filipa Sampaio; Sérgia Soares; Sara Pereira; José Alberto Lemos; Ágata Mota
Journal:  Neuroophthalmology       Date:  2020-07-24

4.  Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

Authors:  H Du; S R Grob; L Zhao; J Lee; M El-Sahn; G Hughes; J Luo; K Schaf; Y Duan; J Quach; X Wei; P Shaw; D Granet; K Zhang
Journal:  Eye (Lond)       Date:  2012-06-01       Impact factor: 3.775

5.  A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

Authors:  Kristin Ørstavik; Sean Ciaran Wallace; Torberg Torbergsen; Angela Abicht; Svein Erik Tangsrud; Emilia Kerty; Magnhild Rasmussen
Journal:  J Neuromuscul Dis       Date:  2015-06-04

6.  Diagnostic Efficacy and Therapeutic Decision-making Capacity of an Artificial Intelligence Platform for Childhood Cataracts in Eye Clinics: A Multicentre Randomized Controlled Trial.

Authors:  Haotian Lin; Ruiyang Li; Zhenzhen Liu; Jingjing Chen; Yahan Yang; Hui Chen; Zhuoling Lin; Weiyi Lai; Erping Long; Xiaohang Wu; Duoru Lin; Yi Zhu; Chuan Chen; Dongxuan Wu; Tongyong Yu; Qianzhong Cao; Xiaoyan Li; Jing Li; Wangting Li; Jinghui Wang; Mingmin Yang; Huiling Hu; Li Zhang; Yang Yu; Xuelan Chen; Jianmin Hu; Ke Zhu; Shuhong Jiang; Yalin Huang; Gang Tan; Jialing Huang; Xiaoming Lin; Xinyu Zhang; Lixia Luo; Yuhua Liu; Xialin Liu; Bing Cheng; Danying Zheng; Mingxing Wu; Weirong Chen; Yizhi Liu
Journal:  EClinicalMedicine       Date:  2019-03-17
  6 in total

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