WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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- 1. 重症筋無力症の鑑別診断 differential diagnosis of myasthenia gravis
- 2. 新生児や乳児の神経筋接合部障害 neuromuscular junction disorders in newborns and infants
- 3. 重症筋無力症の臨床症状 clinical manifestations of myasthenia gravis
- 4. 眼瞼下垂症の概要 overview of ptosis
- 5. 複視の概要 overview of diplopia
English Journal
- GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
- Issop Y1, Hathazi D2, Khan MM3, Rudolf R3,4,5, Weis J6, Spendiff S1, Slater CR7, Roos A1,2, Lochmüller H1,8,9.
- Human molecular genetics.Hum Mol Genet.2018 Jun 14. doi: 10.1093/hmg/ddy225. [Epub ahead of print]
- PMID 29905857
- The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.
- McMacken G1, Cox D1, Roos A1,2, Müller J3, Whittaker R4, Lochmüller H1.
- Human molecular genetics.Hum Mol Genet.2018 May 1;27(9):1556-1564. doi: 10.1093/hmg/ddy062.
- PMID 29462491
- Congenital Myasthenic Syndromes.
- Shieh PB1, Oh SJ2.
- Neurologic clinics.Neurol Clin.2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007.
- PMID 29655455
Japanese Journal
- Identification of pathogenic mutations in the human rapsyn gene
- DUNNE Vanessa,MASELLI Ricardo A.
- Journal of human genetics 48(4), 204-207, 2003-04-01
- NAID 50000827750
Related Links
- Congenital Myasthenic Syndrome Gene 1. Presynaptic With episodic apnea CHAT 2. Synaptic Endplate acetylcholinesterase deficiency COLQ Laminin β2 chain LAMB2 3. Postsynaptic 3.1. Acetylcholine receptor deficiency without ...
- Postsynaptic congenital myasthenic syndromes Three types of postsynaptic dysfunctions have been identified: having too few acetylcholine receptors, and two types of poorly functioning acetylcholine receptors on the muscle ...
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★リンクテーブル★
| リンク元 | 「congenital myasthenic syndrome」「slow-channel congenital myasthenic syndrome」「後シナプス性先天性筋無力症候群」 |
| 関連記事 | 「congenita」「postsynaptic」「myasthenic」「congenital」「myasthenic syndrome」 |
「congenital myasthenic syndrome」
- 同
- CMS
「slow-channel congenital myasthenic syndrome」
「後シナプス性先天性筋無力症候群」
「congenita」
- adj.
- (後置するラテン語形容詞)先天性の
- ex.
「postsynaptic」
- シナプス後の、後シナプスの、・ストシナプスの、シナプス後性の
「myasthenic」
- adj.
- 筋無力症の
「congenital」
- adj.
- 生まれつきの、先天的な