Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 (PEOA2)

Alias:

Peoa2

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 2

Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2

Chronic Progressive External Ophthalmoplegia

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 2

Progressive External Ophthalmoplegia, Autosomal Dominant 2

Autosomal Dominant Progressive External Ophthalmoplegia 2

Progressive External Ophthalmoplegia Autosomal Dominant 2

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，常染色体显性2型，也称为PEOA2，与线粒体肌病和慢性进行性外眼肌麻痹有关，症状包括小脑共济失调、癫痫和肌肉无力。与进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性2型有关的重要基因是SLC25A4（溶质载体家族25成员4）。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-2-羧基chroman和保护剂。相关组织包括骨骼肌和眼睛，相关表型为眼睑下垂和进行性外眼肌麻痹。

Related ID：

MALACARDS：PRG038

OMIM：609283

MESH：D017246