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中文Mitochondrial Complex V Deficiency, Nuclear Type 2 (MC5DN2)
Alias:
Mitochondrial Complex V Deficiency Nuclear Type 2
Mc5dn2
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency
Mitochondrial Encephalo-Cardio-Myopathy Due to Isolated Mitochondrial Respiratory Chain Complex V Deficiency
Mitochondrial Encephalo-Cardio-Myopathy Due to Isolated Atp Synthase Deficiency
Neonatal Mitochondrial Encephalocardiomyopathy Due to Atp Synthase Deficiency
Mitochondrial Neonatal Encephalocardiomyopathy Due to Atp Synthase Deficiency
Mitochondrial Encephalo-Cardio-Myopathy Due to F1fo Atpase Deficiency
Mitochondrial Encephalo-Cardio-Myopathy Due to Tmem70 Deficiency
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Mitochondrial Complex V Deficiency, Nuclear, Type 2
Mitochondrial Complex V Deficiency, Nuclear Type 2
Mitochondrial Complex V Deficiency, Tmem70 Type
Mitochondrial Complex V Deficiency Tmem70 Type
Mitochondrial Complex V Deficiency Type 2
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线粒体复合物V缺陷，核型2，也称为线粒体复合物V缺陷，核型5，与线粒体复合物V缺陷，核型5有关。与线粒体复合物V缺陷，核型2有关的重要基因是TMEM70（跨膜蛋白70）。相关组织包括肝脏和肾脏，相关表型为肌张力减低和小头畸形。
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MALACARDS
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