slow-channel congenital myasthenic syndrome

出典: meddic

スローチャネル型先天性筋無力症

congenital myasthenic syndromepostsynaptic congenital myasthenic syndromeSCCMS

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英文文献

  • Pregnancy in congenital myasthenic syndrome.
  • Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T.SourceService of therapeutic trials and databases, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France, l.servais@institut-myologie.org.
  • Journal of neurology.J Neurol.2012 Oct 30. [Epub ahead of print]
  • Some case reports have suggested possible worsening of the clinical condition of patients with congenital myasthenic syndromes (CMS) during pregnancy. However, this risk has not yet been quantified in a significant number of patients. Using a standardized report form, we reviewed the gynecological a
  • PMID 23108489
  • Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.
  • Walogorsky M, Mongeon R, Wen H, Nelson NR, Urban JM, Ono F, Mandel G, Brehm P.SourceVollum Institute, Oregon Health and Science University, Portland, OR 97239, USA.
  • Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2012 Oct 23;109(43):17711-6. doi: 10.1073/pnas.1215858109. Epub 2012 Oct 8.
  • Mutations in muscle ACh receptors cause slow-channel syndrome (SCS) and Escobar syndrome, two forms of congenital myasthenia. SCS is a dominant disorder with mutations reported for all receptor subunits except γ. Escobar syndrome is distinct, with mutations located exclusively in γ, and characteri
  • PMID 23045675
  • Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
  • Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D.SourceNeuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Nuffield Department of Clinical Neuroscience, The John Radcliffe Hospital, Oxford, UK.
  • Muscle & nerve.Muscle Nerve.2012 Jul 26. doi: 10.1002/mus.23534. [Epub ahead of print]
  • Introduction: Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation. Methods: Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant functio
  • PMID 23281026

和文文献

  • Mutations in different functional domains of the human muscle acetylcholine receptor α subunit in patient with the slow-channel congenital myasthenic syndrome

関連リンク

A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Slow-channel congenital myasthenic syndrome ... These Web pages are updated as the Genetic ...
Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood ...

関連画像

Services on Demandmyasthenic syndrome | DiseaseMyasthenic Syndromes, Congenital congenital myasthenic syndromes e g slowMyasthenic Syndromes, CongenitalServices on Demand


★リンクテーブル★
リンク元congenital myasthenic syndrome」「スローチャネル型先天性筋無力症」「postsynaptic congenital myasthenic syndrome」「SCCMS
関連記事channel」「slow」「syndrome」「congenital」「congenita

congenital myasthenic syndrome」

  [★]

先天性筋無力症症候群先天性筋無力症候群

postsynaptic congenital myasthenic syndromeslow-channel congenital myasthenic syndrome
CMS


スローチャネル型先天性筋無力症」

  [★]

slow-channel congenital myasthenic syndromeSCCMS
先天性筋無力症症候群後シナプス性先天性筋無力症候群


postsynaptic congenital myasthenic syndrome」

  [★]

後シナプス性先天性筋無力症候群

congenital myasthenic syndromeslow-channel congenital myasthenic syndrome

SCCMS」

  [★]

スローチャネル型先天性筋無力症

slow-channel congenital myasthenic syndrome


channel」

  [★]

  • n.
  • 川床、川底。水路、河道
  • 海峡
  • 水管、導管
  • 経路、ルート。道筋、方向
ion channelionic channel

WordNet   license wordnet

「direct the flow of; "channel information towards a broad audience"」
canalize, canalise

WordNet   license wordnet

「a television station and its programs; "a satellite TV channel"; "surfing through the channels"; "they offer more than one hundred channels"」
television channel, TV channel

WordNet   license wordnet

「a passage for water (or other fluids) to flow through; "the fields were crossed with irrigation channels"; "gutters carried off the rainwater into a series of channels under the street"」

WordNet   license wordnet

「(often plural) a means of communication or access; "it must go through official channels"; "lines of communication were set up between the two firms"」
communication channel, line

WordNet   license wordnet

「a path over which electrical signals can pass; "a channel is typically what you rent from a telephone company"」
transmission channel

WordNet   license wordnet

「a deep and relatively narrow body of water (as in a river or a harbor or a strait linking two larger bodies) that allows the best passage for vessels; "the ship went aground in the channel"」

PrepTutorEJDIC   license prepejdic

「〈C〉『水路』(川・湾・運河の船の通行ができる深い部分) / 〈U〉河床・川底 / 〈C〉『海峡』 / 〈C〉みぞ(groove),(道路の)水渠(すいきょ) / 《複数形で》(運搬・伝達の)正式の経路(手続き);(一般に)経路 / 〈C〉(テレビ・ラジオの)チャンネル / …‘に'水路を開く / …‘に'みぞを堀る / …'を'伝える,流す」


slow」

  [★]

  • adj.
  • (比較級slower-最上級slowest)緩徐な、遅い、ゆっくりとした、緩慢な
  • v.
gradualgraduallylateslowlysluggish

WordNet   license wordnet

「not moving quickly; taking a comparatively long time; "a slow walker"; "the slow lane of traffic"; "her steps were slow"; "he was slow in reacting to the news"; "slow but steady growth"」

WordNet   license wordnet

「cause to proceed more slowly; "The illness slowed him down"」
slow down, slow up

WordNet   license wordnet

「become slow or slower; "Production slowed"」
slow down, slow up, slack, slacken

WordNet   license wordnet

「(used of timepieces) indicating a time earlier than the correct time; "the clock is slow"」

WordNet   license wordnet

「at a slow tempo; "the band played a slow waltz"」

PrepTutorEJDIC   license prepejdic

「(速度・動作などが)『遅い』,のろい / 《補語または名詞の後にのみ用いて》(時計などが)『遅れている』 / 『ゆったりした』,あわてない / (人が)理解の遅い,頭の鈍い / (生活・パーティーなどが)『活気のない』,おもしろくない / 遅く,ゆっくり(slowly) / 『遅くなる』,速度を落とす《+『down』(『up』)》 / …‘を'『遅くする』,‘の'速度を落とす《+『名』+『down』(『up』),+『down』(『up』)+『名』》」


syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(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」


congenital」

  [★]

  • adj.
  • 生まれつきの、先天的な

WordNet   license wordnet

「present at birth but not necessarily hereditary; acquired during fetal development」
inborn, innate

PrepTutorEJDIC   license prepejdic

「(病気・身体的欠陥など)生まれつきの,先天的な」


congenita」

  [★]

  • adj.
  • (後置するラテン語形容詞)先天性の
congenitalcongenitally
  • ex.




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