Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (PEOB2)

Alias:

Adult-Onset Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy

Peob2

Adult-Onset Cpeo with Mitochondrial Myopathy

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

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2

Progressive External Ophthalmoplegia, Autosomal Recessive 2

Autosomal Recessive Progressive External Ophthalmoplegia 2

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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

进行性外展性眼肌麻痹伴线粒体DNA缺失，常染色体隐性2型，又称成人慢性进行性外展性眼肌麻痹伴线粒体肌病，与线粒体DNA耗竭综合征6和线粒体DNA耗竭综合征有关。与进行性外展性眼肌麻痹伴线粒体DNA缺失，常染色体隐性2型相关的重要基因是RNASEH1（核糖核酸酶H1）。相关组织包括眼睛和骨骼肌，相关表型为进行性外展性眼肌麻痹和肢体肌肉无力。

Related ID：

MALACARDS：PRG102

OMIM：616479

MESH：D017246