Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 (PEOB4)

Alias:

Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due to Dguok Deficiency

Peob4

Adult-Onset Multiple Mtdna Deletion Syndrome Due to Dguok Deficiency

Progressive External Ophthalmoplegia, Autosomal Recessive 4

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 4

Progressive External Ophthalmoplegia with Mi Dna Deletions, Autosomal Recessive 4

Autosomal Recessive Progressive External Ophthalmoplegia 4

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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4型，又称dguok缺乏导致的成年期多发线粒体DNA缺失综合征，与门静脉高压、非肝硬化1型和线粒体DNA耗竭综合征3型有关。与进行性外眼肌麻痹伴线粒体DNA缺失，常染色体隐性4型相关的基因是DGUOK（脱氧鸟苷激酶）。相关组织包括骨骼肌和眼睛，相关表型为吞咽困难和进行性外眼肌麻痹。

Related ID：

MALACARDS：PRG128

OMIM：617070

MESH：D017246