Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 (EMPF2)

线粒体缺陷和过氧化物酶体裂变引起的脑病2型(来自ICD-11)

别称:

Empf2

Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission, Type 2

Mff-Related Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect

Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome

Leigh-Like Encephalopathy-Optic Atrophy-Peripheral Neuropathy Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

由于缺陷性的线粒体和过氧化物酶体分裂2，也被称为empf2，与先天性半发育不全、鱼鳞病样红皮病和肢体缺陷和痉挛有关。与Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2相关的基因是MFF（线粒体分裂因子）。相关组织包括大脑，相关表型为癫痫和痉挛

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