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单词 Myoclonic Epilepsy with Ragged Red Fibers
释义

Myoclonic Epilepsy with Ragged Red Fibers

中文百科

肌抽跃癫痫合并红色褴褛肌纤维症 MERRF syndrome

(重定向自Myoclonic Epilepsy with Ragged Red Fibers)

肌抽跃癫痫合并红色褴褛肌纤维症,简称MERRF症候群(Myoclonic Epilepsy with Ragged Red Fibers Syndrome),是一种罕见粒线体遗传疾病,在患病机率约是10万人中有1.5人,根据粒线体中的异质体表现程度不同,病情的严重程度也会不同。中文译名亦译作肌阵挛性癫痫发作伴破碎红纤维病变。

英语百科

MERRF syndrome 肌抽跃癫痫合并红色褴褛肌纤维症

(重定向自Myoclonic Epilepsy with Ragged Red Fibers)

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.

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更新时间:2025/6/17 21:36:36