筋緊張症、パラミオトニア
- 関
- dystonia、myotonia
WordNet
- abnormally long muscular contractions; slow relaxation of a muscle after a contraction
UpToDate Contents
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English Journal
- [Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].
- Li W1, Chen Q, Zhang Q, Li X, Du J.
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2016 Apr;33(2):131-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.001.
- OBJECTIVE: To detect SCN4A gene mutation in a pedigree with paramyotonia congenita in order to facilitate genetic counseling and assisted reproduction.METHODS: Clinical data of the family was collected. DNA was extracted from peripheral blood samples. Potential mutation of the SCN4A gene was screene
- PMID 27060299
- Myotonic disorders: A review article.
- Hahn C1, Salajegheh MK1.
- Iranian journal of neurology.Iran J Neurol.2016 Jan 5;15(1):46-53.
- The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some fo
- PMID 27141276
- Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
- Mankodi A1, Grunseich C2, Skov M3, Cook L4, Aue G4, Purev E4, Bakar D2, Lehky T5, Jurkat-Rott K6, Pedersen TH3, Childs RW4.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.
- We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of
- PMID 26494408
Japanese Journal
- A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia Congenita
- 高橋 悟,山本 志保,田中 亮介,岡山 亜貴恵,荒木 章子,梶野 浩樹,東 寛
- Journal of Neurology & Neurophysiology 5(5), 1-3, 2014-09
- Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A, the gene enconding the alpha subunit of skeletal muscle sodium channel. It is clinically characteri …
- NAID 120005567843
- 2週間持続する脱力発作を呈したナトリウムチャネル異常症の1家系
- 滋賀 健介,水田 依久子,能登 祐一,中川 正法,佐々木 良元,山脇 正永
- 臨床神経学 54(5), 434-439, 2014
- 症例は73歳の男性である.2歳頃から2週間持続する下肢脱力発作をくりかえしていたが,CK高値のため入院した.下肢近位筋の筋力低下・眼瞼ミオトニーをみとめた.針筋電図でミオトニー放電をみとめ,prolonged exercise test陽性であった.発端者で,筋特異的電位依存性ナトリウムチャネルαサブユニット遺伝子(SCN4A)のヘテロ接合変異(M1592V)をみとめた.家系解析で本変異と脱力発作 …
- NAID 130004505584
- 臨床研究・症例報告 先天性パラミオトニアの1孤発例
Related Pictures
★リンクテーブル★
[★]
- 英
- paramyotonia
- 同
- 背理性筋強直
- 関
- オイレンブルク症候群、筋強直症、筋緊張症。ミオトニー
[★]
- 英
- paramyotonia
- 関
- 筋緊張症