赤色ぼろ線維・ミオクローヌスてんかん症候群、赤色ぼろ線維を伴うミオクローヌスてんかん
WordNet
- of a color at the end of the color spectrum (next to orange); resembling the color of blood or cherries or tomatoes or rubies (同)reddish, ruddy, blood-red, carmine, cerise, cherry, cherry-red, crimson, ruby, ruby-red, scarlet
- red color or pigment; the chromatic color resembling the hue of blood (同)redness
- worn out from stress or strain; "run ragged"
- being or dressed in clothes that are worn or torn; "clothes as ragged as a scarecrows"; "a ragged tramp"
- having an irregular outline; "text set with ragged right margins"; "herded the class into a ragged line"
- a message whose ingenuity or verbal skill or incongruity has the power to evoke laughter (同)humor, humour, witticism, wittiness
- 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
PrepTutorEJDIC
- 〈U〉〈C〉『赤,』『赤色;』赤い絵の具(染料) / 〈U〉赤い服 / 〈C〉《しばしば『R-』》《話》《時に軽べつして》アカ,共産主義者;過激論(主義)者 / 〈U〉《通例the ~》(会計の)赤字,負債 / 『赤い』,赤色の / (顔・目などが)赤くなった;血に染った / 赤い服を着た;赤毛の / 《しばしば『R-』》《話》《軽べつして》共産主義の;過激な
- 《随伴・協調》…『と』,と共に,といっしょに / 《所有・所持》…『を持っている』,がある,の付いた / 《道具・手段》…『で』,を使って / 《財料・供給物》…『で』,を与えて / …を支持して,に賛成して / …『に反対(敵対)して』,を相手として / …『と同時に』,と同様に / …『に比べて』,に比例して / 《様態》《名詞を伴い副詞句として》『…で』,を示して,をもって / 《付帯状競》…『して』,しながら / 《譲歩》…がありながら,にもかかわらず / 『…が原因で』,のために,…で / …に任せて,のもとにあずけて,のところに / …に関して,について / …から離れて / 《連結・混合》…と / 《副詞と共に命令文で》
- (依服などが)『ぼろぼろの』,すり切れた;(人が)『ぼろ[服]を着た』 / 『ごつごつした』,でこぼこの,ぎざぎざの / (仕事・作品など)できが不ぞろいの / (毛・草などが)ぼうぼうの,手入れをしていない / (声などが)不ぞろいの
- 知る(know)
- 〈U〉『機知』,機転,ウィット / 〈C〉『機知に富む人』,機転のきく人 / 《複数形で;単数扱い》『理解(表現)力』,知性 / 《複数形で》(物事を見抜いたりもくろんだりする)才覚,才知 / 《複数形で;単数扱い》正気
UpToDate Contents
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- 1. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
- 2. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
- 3. 遺伝性運動失調の概要 overview of the hereditary ataxias
- 4. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
- 5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
English Journal
- Ophthalmological findings in 74 patients with mitochondrial disease.
- Zhu CC1,2, Traboulsi EI3, Parikh S1.
- Ophthalmic genetics.Ophthalmic Genet.2016 Mar 30:1-3. [Epub ahead of print]
- BACKGROUND: Mitochondrial disease often manifests with ophthalmologic signs and symptoms. Due to the important role of mitochondria in aerobic metabolism, the eyes are among the more preferentially involved organs. The clinical diagnosis of mitochondrial disease can be facilitated by an improved kno
- PMID 27029465
- A case of MELAS associated with histochemical findings of muscles characteristic of MERRF.
- Suzuki H1, Ono M, Kojima Y, Kanda M, Shibasaki H, Oki M, Nakano S.
- Rinshō shinkeigaku = Clinical neurology.Rinsho Shinkeigaku.2016 Mar 30;56(3):196-9. doi: 10.5692/clinicalneurol.cn-000783. Epub 2016 Mar 8.
- We here report a 39-year-old woman of short stature with sensorineural deafness, who suddenly developed status epilepticus. T2-weighed image of brain magnetic resonance imaging (MRI) revealed a high signal lesion in the left temporal area, the distribution of which was not compatible with any partic
- PMID 26960269
- Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome.
- Chou SJ1, Tseng WL1,2, Chen CT3, Lai YF4,2, Chien CS5,2, Chang YL1,2, Lee HC1,5, Wei YH3, Chiou SH1,4,5,2.
- Scientific reports.Sci Rep.2016 Mar 30;6:23661. doi: 10.1038/srep23661.
- Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a mitochondrial disorder characterized by myoclonus epilepsy, generalized seizures, ataxia and myopathy. MERRF syndrome is primarily due to an A to G mutation at mtDNA 8344 that disrupts the mitochondrial gene for tRNA(Lys). However, th
- PMID 27025901
Japanese Journal
- MERRF Syndrome Presenting with Multiple Symmetric Lipomatosis in a Japanese Patient
- Internal Medicine 49(5), 479-482, 2010
- NAID 130000251700
- Myoclonic epilepsy with ragged-red fibers (MERRF): An immunohistochemical study of the brain
- Brain Pathol 5, 125-133, 1995
- NAID 30034592436
- Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency:neuropathology,biochemistry,and molecular genetics
- Ann.Neurol. 26, 20-33, 1989
- NAID 30008834739
Related Links
- Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during ...
- Myoclonic Epilepsy with Ragged Red Fibers (MERRF) - Free download as Powerpoint Presentation (.ppt / .pptx), PDF File (.pdf), Text file (.txt) or view presentation slides online. In 80% of cases, MERRF is caused by a single base ...
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★リンクテーブル★
| リンク元 | 「赤色ぼろ線維を伴うミオクローヌスてんかん」「赤色ぼろ線維・ミオクローヌスてんかん症候群」「myoclonic epilepsy and ragged red fibers」「MERRF」 |
| 関連記事 | 「myoclonic epilepsy」「epilepsy」「red」「myoclonic」 |
「赤色ぼろ線維を伴うミオクローヌスてんかん」
- 英
- myoclonic epilepsy with ragged-red fibers、myoclonic epilepsy and ragged red fibers、MERRF、MERRF syndrome、myoclonus epilepsy associated with ragged-red fibers
- 関
- マーフ、マーフ症候群、MERRF症候群、赤色ぼろ線維・ミオクローヌスてんかん症候群
「赤色ぼろ線維・ミオクローヌスてんかん症候群」
- 英
- myoclonic epilepsy with ragged-red fibers、myoclonic epilepsy and ragged red fibers, myoclonus epilepsy associated with ragged red fibers、MERRF
- 関
- 赤色ぼろ線維を伴うミオクローヌスてんかん
「myoclonic epilepsy and ragged red fibers」
[★] 赤色ぼろ線維・ミオクローヌスてんかん症候群、赤色ぼろ線維を伴うミオクローヌスてんかん
「MERRF」
「myoclonic epilepsy」
「epilepsy」
「red」
- adj.
- 関
- erythro
「myoclonic」
- adj.
- 筋クローヌス性の、ミオクローヌス性の