muscle phosphoglycerate mutase deficiency syndrome

筋ホスホグリセリン酸ムターゼ欠損症候群

WordNet

1. make ones way by force; "He muscled his way into the office"
2. animal tissue consisting predominantly of contractile cells (同)muscular_tissue
3. one of the contractile organs of the body (同)musculus
4. authority or power or force (especially when used in a coercive way); "the senators used their muscle to get the party leader to resign"
5. a pattern of symptoms indicative of some disease
6. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. 〈U〉(動物体の組織としての)『筋肉』,筋(きん);〈C〉(体の各部を動かす)筋肉 / 〈U〉力,(特に)筋力,腕力 / 《俗に》(…に)強引に割り込む《+『in on』(『into, through』)+『名』》
2. 〈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
3. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
4. 筋肉の,筋力のある / 力ずくの

UpToDate Contents

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• 1. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
• 3. 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
• 4. 筋力低下患者へのアプローチ approach to the patient with muscle weakness
• 5. 救急外来における急性の筋力低下を訴える成人の評価 evaluation of the adult with acute weakness in the emergency department

English Journal

• CARM1/PRMT4 is necessary for the glycogen gene expression programme in skeletal muscle cells.

• Wang SC1, Dowhan DH, Eriksson NA, Muscat GE.
• The Biochemical journal.Biochem J.2012 Jun 1;444(2):323-31. doi: 10.1042/BJ20112033.
• CARM1 (co-activator-associated arginine methyltransferase 1)/PRMT4 (protein arginine methyltransferase 4), functions as a co-activator for transcription factors that are regulators of muscle fibre type and oxidative metabolism, including PGC (peroxisome-proliferator-activated receptor γ co-activato
• PMID 22428544

Related Links

• Phosphoglycerate mutase deficiency | Metabolic Diseases ...

What is phosphoglycerate mutase deficiency (glycogenosis type 10)? Phosphoglycerate mutase deficiency is one of a group of muscle diseases that interferes with the processing of food (in this case, carbohydrates) for energy ...

• Muscle phosphoglycerate mutase deficiency.

1. Neurology. 1982 Jun;32(6):584-91. Muscle phosphoglycerate mutase deficiency. DiMauro S, Miranda AF, Olarte M, Friedman R, Hays AP. A 52-year-old man complained since adolescence of cramps and pigmenturia after 15 to 30 ...

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★リンクテーブル★

リンク元	「筋ホスホグリセリン酸ムターゼ欠損症候群」
関連記事	「deficiency」「mutase」「phosphoglycerate mutase」「muscle」「phosphoglycerate」

「筋ホスホグリセリン酸ムターゼ欠損症候群」

　　[★]

英

muscle phosphoglycerate mutase deficiency syndrome

「deficiency」

　　[★]

• n.

• 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

　

「mutase」

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ムターゼ

関

intramolecular transferase

「phosphoglycerate mutase」

　　[★] ホスホグリセリン酸ムターゼ

「muscle」

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• n.

• 筋肉

　 　 　 　 　

「phosphoglycerate」

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ホスホグリセリン酸