関: congenital myasthenic syndrome、slow-channel congenital myasthenic syndrome

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

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

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: A Brief Review

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 ...

Congenital Myasthenic Syndrome

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 ...

★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」