先天性線維型不均衡ミオパチー
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- tell a relatively insignificant lie; "Fibbing is not acceptable, even if you dont call it lying"
- a trivial lie; "he told a fib about eating his spinach"; "how can I stop my child from telling stories?" (同)story, tale, tarradiddle, taradiddle
- a slender and greatly elongated substance capable of being spun into yarn (同)fibre
- a leatherlike material made by compressing layers of paper or cloth (同)fibre, vulcanized fiber
- any of several elongated, threadlike cells (especially a muscle fiber or a nerve fiber) (同)fibre
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- lack of proportion; imbalance among the parts of something
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- (ささいな,罪のない)うそ / 軽いうそをつく
- (病気・身体的欠陥など)生まれつきの,先天的な
- (大きさ・数・量などの)不均衡;(二者間の)不釣り合い《+『between』+『名』》;〈C〉不釣り合いな物
UpToDate Contents
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English Journal
- Congenital fiber type disproportion.
- Kissiedu J1, Prayson RA2.
- Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2016 Apr;26:136-7. doi: 10.1016/j.jocn.2015.08.029. Epub 2015 Oct 29.
- Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic consider
- PMID 26526626
- Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
- Zaharieva IT1, Thor MG2, Oates EC3, van Karnebeek C4, Hendson G5, Blom E4, Witting N6, Rasmussen M7, Gabbett MT8, Ravenscroft G9, Sframeli M1, Suetterlin K2, Sarkozy A1, D'Argenzio L1, Hartley L10, Matthews E2, Pitt M11, Vissing J6, Ballegaard M12, Krarup C12, Slørdahl A13, Halvorsen H14, Ye XC4, Zhang LH4, Løkken N6, Werlauff U15, Abdelsayed M16, Davis MR17, Feng L1, Phadke R1, Sewry CA1, Morgan JE18, Laing NG9, Vallance H4, Ruben P16, Hanna MG2, Lewis S4, Kamsteeg EJ19, Männikkö R2, Muntoni F20.
- Brain : a journal of neurology.Brain.2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.
- See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biop
- PMID 26700687
- Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy.
- Martin-Flores M1, Paré MD2, Campoy L2, Gleed RD2.
- British journal of anaesthesia.Br J Anaesth.2015 Dec;115(6):927-31. doi: 10.1093/bja/aev397.
- BACKGROUND: Centronuclear myopathy (CNM) is a rare congenital condition associated with skeletal muscle weakness. Patients with CNM may have decreased acetylcholine receptor expression and a reduced number of releasable quanta. Such perturbations could affect the time-course of neuromuscular blockin
- PMID 26582854
Japanese Journal
- Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
- KAWASHIMA Hisashi,ISHII Chiako,YAMANAKA Gaku,IOI Hiroaki,NISHIMATA Shigeo,KASHIWAGI Yasuyo,TAKEKUMA Kouji,MIYAJIMA Tasuku,HOSHIKA Akinori,NISHINO Ichizo,NONAKA Ikuya
- Pediatrics international : official journal of the Japan Pediatric Society 53(2), 159-161, 2011-04-01
- NAID 10029557565
- 藤田 賢吾,中野 智,山本 博之 [他],伊藤 恒,伊東 秀文,後藤 葉一,日下 博文
- 臨床神経学 : CLINICAL NEUROLOGY 45(5), 380-382, 2005-05-01
- NAID 10015708055
- Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy
- NAKADA Chisato,OKA Akira,NONAKA Ikuya,SATO Kenzo,MORI Shigeo,ITO Hisao,MORIYAMA Masatsugu
- Pathology international 53(10), 653-658, 2003-10-01
- NAID 50000346440
Related Links
- The portal for rare diseases and orphan drugs ... Summary Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at ...
- Congenital fiber-type disproportion is a disorder that primarily affects skeletal muscles, which are muscles the body uses for movement. People with this disorder typically experience muscle weakness (myopathy ...
★リンクテーブル★
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- 英
- congenital fiber type disproportion, congenital fiber-type disproportion myopathy
- 関
- 先天性筋線維タイプ不均等症
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
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- 関
- congenital、congenitally
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- 関
- form、mode、pattern、type
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