先天性終板アセチルコリンエステラーゼ欠損症候群
WordNet
- put an end to; "The terrible news ended our hopes that he had survived"
- a final state; "he came to a bad end"; "the so-called glorious experiment came to an inglorious end" (同)destruction, death
- the point in time at which something ends; "the end of the year"; "the ending of warranty period" (同)ending
- bring to an end or halt; "She ended their friendship when she found out that he had once been convicted of a crime"; "The attack on Poland terminated the relatively peaceful period after WW I" (同)terminate
- a piece of cloth that is left over after the rest has been used or sold (同)remainder, remnant, oddment
- (American football) a position on the line of scrimmage; "no one wanted to play end"
- the part you are expected to play; "he held up his end"
- the concluding parts of an event or occurrence; "the end was exciting"; "I had to miss the last of the movie" (同)last, final_stage
- either extremity of something that has length; "the end of the pier"; "she knotted the end of the thread"; "they rode to the end of the line"; "the terminals of the anterior arches of the fornix" (同)terminal
- (football) the person who plays at one end of the line of scrimmage; "the end managed to hold onto the pass"
- a boundary marking the extremities of something; "the end of town"
- a final part or section; "we have given it at the end of the section since it involves the calculus"; "Start at the beginning and go on until you come to the end"
- one of two places from which people are communicating to each other; "the phone rang at the other end"; "both ends wrote at the same time"
- the surface at either extremity of a three-dimensional object; "one end of the box was marked `This side up"
- have an end, in a temporal, spatial, or quantitative sense; either spatial or metaphorical; "the bronchioles terminate in a capillary bed"; "Your rights stop where you infringe upon the rights of other"; "My property ends by the bushes"; "The symphony ends in a pianissimo" (同)stop, finish, terminate, cease
- be the end of; be the last or concluding part of; "This sad scene ended the movie" (同)terminate
- coat with a layer of metal; "plate spoons with silver"
- the quantity contained in a plate (同)plateful
- a shallow receptacle for collection in church (同)collection plate
- a flat sheet of metal or glass on which a photographic image can be recorded (同)photographic plate
- a metal sheathing of uniform thickness (such as the shield attached to an artillery piece to protect the gunners) (同)scale, shell
- a full-page illustration (usually on slick paper)
- a sheet of metal or wood or glass or plastic
- dish on which food is served or from which food is eaten
- structural member consisting of a horizontal beam that provides bearing and anchorage
- the positively charged electrode in a vacuum tube
- a rigid layer of the Earths crust that is believed to drift slowly (同)crustal plate
- a main course served on a plate; "a vegetable plate"; "the blue plate special"
- any flat platelike body structure or part
- the thin under portion of the forequarter
- event whose occurrence ends something; "his death marked the ending of an era"; "when these final episodes are broadcast it will be the finish of the show" (同)conclusion, finish
- the end of a word (a suffix or inflectional ending or final morpheme); "I dont like words that have -ism as an ending" (同)termination
- a thin coating of metal deposited on a surface (同)metal_plating
- the application of a thin coat of metal (as by electrolysis)
PrepTutorEJDIC
- (細いものの)『端』,先端《+『of』+『名』》 / (物語などの)『終り』,終結部《+『of』+『名』》 / (物事・期間の)『最後』《+『of』+『名』》;(…に)結末をつけるもの《+『to』+『名』》 / (…の)端の部分,末端部《『of』+『名』》 / 《しばしば複数形で》『目的』(purpose),目標(aim) / 《遠回しに》死,滅亡 / 《しばしば複数形で》切れ端,くず,残りもの / (事業などの)部門(part) / (フットボールで)エンド)前衛両端の選手または位置) / …‘を'『終わらせる』,終える / 〈物事が〉…‘の'終りとなる,‘を'締めくくる / 『終わる』,終了する(come to an end)
- 〈C〉(通例各人用の丸い)『平皿』 / 〈C〉(料理の)『1皿』[『分』]《+『of』+『名』》 / 〈C〉料理の1人前 / 〈C〉(教会などの)献金皿 / 〈U〉《集合的に》(スプーン・皿など)金(銀)製の食器類 / 〈C〉(金属・ガラス・プラスチックなどの)平板,板金 / 〈C〉(金属・木などの)標札,ナンバープレート / 〈C〉金属(石,木)版画;(本文と別刷りの)図版 / 〈C〉(印刷方法の)電気版,ステロ版 / 〈C〉(写真の)感光板 / 〈C〉《the~》(野球の)本塁(home plate) / (…を)…‘に'めっきする《+『名』+『with』+『名』》 / (保護のために)…‘を'板金で覆う / (印刷で)…‘を'電気版(ステロ版)にする
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 終り,終了;(物語・映画などの)結末 / (文の)語尾
- (金・銀などの)めっき / (船・乗物などの鋼鉄板の)被復,装甲
UpToDate Contents
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English Journal
- Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
- Matlik HN1, Milhem RM2, Saadeldin IY1, Al-Jaibeji HS2, Al-Gazali L3, Ali BR4.
- Pediatric neurology.Pediatr Neurol.2014 Jul;51(1):165-9. doi: 10.1016/j.pediatrneurol.2014.03.012. Epub 2014 Mar 22.
- BACKGROUND: Congenital myasthenic syndromes with end-plate acetylcholinesterase deficiency are rare autosomal recessive disorders characterized by onset of the disease in early childhood, general weakness exacerbated by exertion, ophthalmoplegia, and refractoriness to anticholinesterase drugs. To da
- PMID 24938146
- Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
- Wargon I1, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, Lebail A, Bauche S, Hantaï D, Fournier E, Eymard B, Stojkovic T.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2012 Apr;22(4):318-24. doi: 10.1016/j.nmd.2011.09.002. Epub 2011 Nov 15.
- Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE d
- PMID 22088788
- Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency.
- Lorenzoni PJ1, Scola RH, Gervini BL, Kay CS, Werneck LC.
- Arquivos de neuro-psiquiatria.Arq Neuropsiquiatr.2009 Jun;67(2B):502-4.
- PMID 19623452
Related Links
- [Show abstract] [Hide abstract] ABSTRACT: Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular ... Mutation in the human acetylcholinesterase-associated ...
- ABSTRACT The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal ...
★リンクテーブル★
[★]
- 英
- congenital end plate acetylcholinesterase deficiency syndrome
- 関
- 終板、アセチルコリンエステラーゼ
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
- 関
- aim、brink、cease、complete、conclude、corner、distal、eventuate、extremity、goal、object、objective、side、terminal、terminally、terminate、termination
[★]
- 関
- diagram、dish、drawing、fig、figure、placoid、plot
[★]
- 関
- congenital、congenitally
[★]
- (細菌/細胞を培養皿に蒔くこと)プレーティング、(工業)メッキ
- 関
- metal plating