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 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
- a disorder of the central nervous system characterized by loss of consciousness and convulsions
PrepTutorEJDIC
- 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
- 〈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
- (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
- てんかん
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. 先天性代謝異常症：個々の障害の判別 inborn errors of metabolism identifying the specific disorder
- 4. 非メンデル遺伝のパターン non mendelian inheritance patterns
- 5. 遺伝性運動失調の概要 overview of the hereditary ataxias
English Journal
- MitoTALEN: A general approach to reduce mutant mtDNA loads and restore oxidative phosphorylation function in mitochondrial diseases.
- Hashimoto M1, Bacman SR1, Peralta S1, Falk MJ2, Chomyn A3, Chan DC3, Williams SL4, Moraes CT5.
- Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2015 Jul 10. doi: 10.1038/mt.2015.126. [Epub ahead of print]
- We have designed mitochondrially targeted Transcription Activator-Like Effector Nucleases or mitoTALENs to cleave specific sequences in the mitochondrial DNA (mtDNA) with the goal of eliminating mtDNA carrying pathogenic point mutations. To test the generality of the approach we designed mitoTALENs
- PMID 26159306
- A typical case of myoclonic epilepsy with ragged red fibers (MERRF) and the lessons learned.
- Chandra SR1, Issac TG, Gayathri N, Gupta N, Abbas MM.
- Journal of postgraduate medicine.J Postgrad Med.2015 Jul-Sep;61(3):200-2. doi: 10.4103/0022-3859.150905.
- Mitochondrial diseases have a special predilection to involve the brain in view of its high metabolic demand and the tendency for the formation of excitatory neurotransmitters when there is deficiency of intracellular ATP. These diseases have a great phenotypic variation and need a high degree of su
- PMID 26119441
- Oxidative stress in inherited mitochondrial diseases.
- Hayashi G1, Cortopassi G2.
- Free radical biology & medicine.Free Radic Biol Med.2015 Jun 12. pii: S0891-5849(15)00262-2. doi: 10.1016/j.freeradbiomed.2015.05.039. [Epub ahead of print]
- Mitochondria are a source of reactive oxygen species (ROS). Mitochondrial diseases are the result of inherited defects in mitochondrially expressed genes. One potential pathomechanism for mitochondrial disease is oxidative stress. Oxidative stress can occur as the result of increased ROS production
- PMID 26073122
Japanese Journal
- MERRF Syndrome Presenting with Multiple Symmetric Lipomatosis in a Japanese Patient
- Kobayashi Junpei,Nagao Masahiro,Miyamoto Kazuhito,Matsubara Shiro
- Internal Medicine 49(5), 479-482, 2010
- … Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuharas disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). …
- NAID 130000251700
- Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency:neuropathology,biochemistry,and molecular genetics
- LOMBES A.
- 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 muscles and the nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence ...
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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 with 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 with 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