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Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.先天性肌强直合并斜视的大型家系与 SCN4A 基因突变。
Eye (Lond). 2012 Aug;26(8):1039-43. doi: 10.1038/eye.2012.80. Epub 2012 Jun 1.
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Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.使用全外显子组测序对埃及患者先天性肌强直进行临床和分子特征分析。
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Functional and Structural Characterization of ClC-1 and Na1.4 Channels Resulting from and Mutations Identified Alone and Coexisting in Myotonic Patients.氯离子通道 ClC-1 和 Na1.4 通道的功能和结构特征，这些突变单独存在或共同存在于肌强直性营养不良患者中。
Cells. 2021 Feb 11;10(2):374. doi: 10.3390/cells10020374.
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In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.对CLCN1和SCN4A进行串联分析可大大提高非营养不良性肌强直家系中的突变检测率。
Eur J Hum Genet. 2008 Aug;16(8):921-9. doi: 10.1038/ejhg.2008.39. Epub 2008 Mar 12.
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Myotonia congenita: mutation spectrum of in Spanish patients.先天性肌强直：西班牙患者的突变谱。
J Genet. 2019 Sep;98.
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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.先天性肌强直和周期性低钾血症性麻痹在一个血缘婚姻家系中：一种新型 CLCN1 突变和 SCN4A 突变共存。
PLoS One. 2020 May 14;15(5):e0233017. doi: 10.1371/journal.pone.0233017. eCollection 2020.
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A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.一种新型先天性肌强直小鼠，其氯离子通道蛋白1（ClC-1）和电压门控钠通道α亚基4（SCN4A）无分子缺陷。
Neurology. 2002 Oct 8;59(7):1091-4. doi: 10.1212/wnl.59.7.1091.
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A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.一个患有钠通道性肌强直的撒丁岛三代家族中钠通道α亚基基因（SCN4A）的c.1775C > T点突变
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Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.非营养不良性肌强直症：70 例德国患者的临床和突变谱。
J Neurol. 2021 May;268(5):1708-1720. doi: 10.1007/s00415-020-10328-1. Epub 2020 Dec 2.
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Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.中国人群非营养不良性肌强直患者中CLCN1和SCN4A基因序列：10个家系的遗传学及系谱分析并文献复习
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引用本文的文献
1
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.钠通道性肌强直与SCN4A基因中的新型Gly701Asp突变：从眼科症状到家族性疾病
Neuroophthalmology. 2020 Jul 24;45(1):41-44. doi: 10.1080/01658107.2020.1779316. eCollection 2021.
2
Guidelines on clinical presentation and management of nondystrophic myotonias.非营养不良性肌强直症的临床特征和处理指南。
Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27.
3
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.中国人群非营养不良性肌强直患者中CLCN1和SCN4A基因序列：10个家系的遗传学及系谱分析并文献复习
Channels (Austin). 2017 Jan 2;11(1):55-65. doi: 10.1080/19336950.2016.1212140. Epub 2016 Jul 14.
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1
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.SCN4A 基因突变相关骨骼肌钠离子通道病的临床多样性。
J Clin Neurol. 2009 Dec;5(4):186-91. doi: 10.3988/jcn.2009.5.4.186. Epub 2009 Dec 31.
2
Isolated eyelid closure myotonia in two families with sodium channel myotonia.钠离子通道肌强直所致两家系单纯性眼睑闭合性肌强直
Neurogenetics. 2010 May;11(2):257-60. doi: 10.1007/s10048-009-0225-x. Epub 2009 Oct 30.
3
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).先天性肌强直中的眼外肌肥大：在SCN4A基因（V445M）中鉴定出的突变。
J AAPOS. 2009 Oct;13(5):526-7. doi: 10.1016/j.jaapos.2009.07.001.
4
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.重新定义非萎缩性肌强直综合征的临床表型。
J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):647-52. doi: 10.1136/jnnp.2008.162396. Epub 2009 Feb 11.
5
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.对CLCN1和SCN4A进行串联分析可大大提高非营养不良性肌强直家系中的突变检测率。
Eur J Hum Genet. 2008 Aug;16(8):921-9. doi: 10.1038/ejhg.2008.39. Epub 2008 Mar 12.
6
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.法裔加拿大人非萎缩性肌强直的临床、电生理及遗传学研究
Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11.
7
Extraocular muscle hypertrophy in myotonia congenita.先天性肌强直中的眼外肌肥大。
J AAPOS. 2008 Jun;12(3):294-6. doi: 10.1016/j.jaapos.2007.12.002. Epub 2008 Mar 4.
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THE EYE IN DYSTROPHIA MYOTONICA: WITH A REPORT ON ELECTROMYOGRAPHY OF THE EXTRA-OCULAR MUSCLES.眼肌强直性营养不良中的眼部表现：附眼外肌肌电图报告
Br J Ophthalmol. 1961 Mar;45(3):183-96. doi: 10.1136/bjo.45.3.183.
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[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases].[先天性托姆森肌强直与斜视：记录肌强直疾病中的扫视运动]
J Fr Ophtalmol. 2006 Mar;29(3):271-80. doi: 10.1016/s0181-5512(06)73783-4.
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Phenotypic variability in myotonia congenita.先天性肌强直的表型变异性。
Muscle Nerve. 2005 Jul;32(1):19-34. doi: 10.1002/mus.20295.
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