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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク MERRF ： ウィキペディア英語版 MERRF syndrome MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Northern Europe, and has varying degrees of expressivity owing to heteroplasmy.〔(Gene Reviews: MERRF )〕 ==Presentation== It involves the following characteristics: * progressive myoclonic epilepsy * "''Ragged Red Fibers''" - clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain * short stature * hearing loss * lactic acidosis * exercise intolerance * poor night vision 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「MERRF syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.