Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 (PEOA6)

常染色体显性进行性眼外肌麻痹伴遗传线粒体DNA缺失症6型(来自ICD-11)

别称:

Mitochondrial Dna Deletion Syndrome with Progressive Myopathy

Peoa6

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 6

Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 6

Mitochondrial Dna Deletion Syndrome with Limb-Girdle Weakness

Mtdna Deletion Syndrome with Limb-Girdle Weakness

Mtdna Deletion Syndrome with Progressive Myopathy

Dna2-Related Mitochondrial Dna Deletion Syndrome

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 6

Progressive External Ophthalmoplegia, Autosomal Dominant 6

Autosomal Dominant Progressive External Ophthalmoplegia 6

Progressive External Ophthalmoplegia Autosomal Dominant 6

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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6型，也称为线粒体DNA缺失综合征伴进行性肌病，与塞克尔综合征8和塞克尔综合征有关，症状包括肌肉痉挛、肌痛和运动时呼吸困难。与进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性6型有关的重要基因是DNA2（DNA复制解旋酶/核酸酶2），其相关通路/超通路包括线粒体铁硫簇生物合成和胞质铁硫簇组装。相关表型为进行性外眼肌麻痹和肢带肌无力。

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