先天性筋線維タイプ不均等症、先天性線維型不均衡ミオパチー
- 関
- centronuclear myopathy、congenital structural myopathy、myotubular myopathy
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
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/08/10 01:27:55」(JST)
[Wiki en表示]
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders.[1] It has a relatively good outcome and follows a stable course. [2] While the exact genetics is unclear there is an association with TPM3, ACTA1 and SEPN1 gene mutations.[3] It is a rare condition.[4]
History
The condition was named by M. H. Brooke in 1973.[1]
References
- ^ a b Clarke NF, North KN (October 2003). "Congenital fiber type dispropsortion--30 years on". J. Neuropathol. Exp. Neurol. 62 (10): 977–89. PMID 14575234.
- ^ Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC (August 2006). "Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance". Yonsei Med. J. 47 (4): 513–8. doi:10.3349/ymj.2006.47.4.513. PMC 2687732. PMID 16941741.
- ^ Clarke NF, Kolski H, Dye DE et al. (March 2008). "Mutations in TPM3 are a common cause of congenital fiber type disproportion". Ann. Neurol. 63 (3): 329–37. doi:10.1002/ana.21308. PMID 18300303.
- ^ Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C (June 2004). "Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases". Neurol India 52 (2): 254–6. PMID 15269486.
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.2015 Oct 29. pii: S0967-5868(15)00524-X. doi: 10.1016/j.jocn.2015.08.029. [Epub ahead of print]
- 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
- Crystal structure of the dynamin tetramer.
- Reubold TF1, Faelber K2, Plattner N3, Posor Y4, Ketel K4, Curth U1,5, Schlegel J2, Anand R1, Manstein DJ1,5, Noé F3, Haucke V4,6, Daumke O2,6, Eschenburg S1.
- Nature.Nature.2015 Sep 17;525(7569):404-8. doi: 10.1038/nature14880. Epub 2015 Aug 24.
- The mechanochemical protein dynamin is the prototype of the dynamin superfamily of large GTPases, which shape and remodel membranes in diverse cellular processes. Dynamin forms predominantly tetramers in the cytosol, which oligomerize at the neck of clathrin-coated vesicles to mediate constriction a
- PMID 26302298
- Cardiopulmonary resuscitation interface adapted for postextubation continuous noninvasive ventilatory support.
- Bach JR1, Saporito LR.
- American journal of physical medicine & rehabilitation / Association of Academic Physiatrists.Am J Phys Med Rehabil.2015 Sep;94(9):e80-3. doi: 10.1097/PHM.0000000000000352.
- The authors report that a new oral interface designed for cardiopulmonary resuscitation and use during anesthesia permitted the successful extubation of an "unweanable" 27-yr-old woman with nemaline rod myopathy to continuous noninvasive ventilatory support. She had failed two previous extubation at
- PMID 26135377
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
- 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) throughout the body, ...
- 23 Oct 2008 ... Summary. Disease characteristics. Congenital fiber-type disproportion (CFTD) is usually characterized by hypotonia and mild-to-severe generalized muscle weakness at birth or within the first year of life. Although some ...
Related Pictures
![Congenital fibre-type disproportion](https://1mg.info/0/b/l/2884.jpg)
![congenital fibre type disproportion](https://1mg.info/0/b/l/2885.jpg)
![Congenital fibre-type disproportion](https://1mg.info/0/b/l/2886.jpg)
![Congenital fibre-type disproportion](https://1mg.info/0/b/l/2887.jpg)
![for congenital fiber type disproportion](https://1mg.info/0/b/l/2888.jpg)
★リンクテーブル★
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- 英
- congenital fiber type disproportion
- 関
- 中心核ミオパチー、筋細管ミオパチー、先天性構造ミオパチー、先天性線維型不均衡ミオパチー
[★]
先天性ミオパチー、先天性構造ミオパチー
- 関
- centronuclear myopathy、congenital fiber type disproportion、congenital myopathy、myotubular myopathy
[★]
- 英
- congenital fiber type disproportion, congenital fiber-type disproportion myopathy
- 関
- 先天性筋線維タイプ不均等症
[★]
先天性線維型不均衡ミオパチー
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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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