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中文Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)
Alias:
Mitochondrial Dna Depletion Syndrome 8b
Mtdps8a
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive
Mitochondrial Dna Depletion Syndrome Encephalomyopathic with Renal Tubulopathy Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type with Renal Tubulopathy
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related
Encephalomyopathic Mitochondrial Depletion Syndrome with Renal Tubulopathy
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related
Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy
Visceral Myopathy Familial External Ophthalmoplegia
Mitochondrial Dna Depletion Syndrome 8b Mngie Type
Mitochondrial Dna Depletion Syndrome, Type 8a
Mngie Rrm2b-Related
Rrm2b-Mds
Mtdps8b
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线粒体DNA耗竭综合症8a，也称为线粒体DNA耗竭综合症8b，与线粒体DNA耗竭综合症4b和伴有外展性眼肌麻痹的内脏肌病有关，其症状包括消瘦、癫痫发作和步态共济失调。与线粒体DNA耗竭综合症8a有关的重要基因是RRM2B（核糖核苷酸还原酶调节TP53诱导亚基M2B），其相关通路/超级通路包括能量代谢。相关组织包括大脑和肾脏，相关表型包括近端肾小管病和乳酸酸中毒。
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