mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (Q19587393)
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mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21
- MC5DN2
- neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
- Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2
- Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
- Mitochondrial Complex 5 (Atp Synthase) Deficiency, Tmem70 Type
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
- Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Language | Label | Description | Also known as |
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English | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21 |
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