Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 (PEOB1)

常染色体隐性进行性眼外肌麻痹伴线粒体DNA耗竭1型(来自ICD-11)

别称:

Peob1

Chronic Progressive External Ophthalmoplegia

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 1

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive, 1

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive

Progressive External Ophthalmoplegia, Autosomal Recessive 1

Autosomal Recessive Progressive External Ophthalmoplegia 1

Progressive External Ophthalmoplegia Autosomal Recessive

Ocular Myopathy of Von Graefe-Fuchs

Mitochondrial Ocular Myopathy

Kearns-Sayre Syndrome

Graefe Disease

Cpeo

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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

进行性外眼肌麻痹伴线粒体DNA缺失，常染色体隐性1型，也称为PEOB1，与慢性进行性外眼肌麻痹和进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性1型有关，症状包括小脑共济失调、癫痫发作和肌肉无力。与进行性外眼肌麻痹伴线粒体DNA缺失，常染色体隐性1型有关的重要基因是POLG（DNA聚合酶伽马，催化亚基）。在该疾病的背景下，已提到的药物有6-羟基-2,5,7,8-四甲基色原-2-羧酸和保护剂。相关组织包括骨骼肌和眼睛，相关表型是视觉障碍和视神经萎缩。

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