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MERRF syndrome
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MERRF syndrome : 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



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