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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Complex V Deficiency, Nuclear Type 2, also known as mitochondrial complex v deficiency nuclear type 2, is related to mitochondrial complex v deficiency, nuclear type 5. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 2 is TMEM70 (Transmembrane Protein 70). Affiliated tissues include liver and kidney, and related phenotypes are hypotonia and microcephaly

Related ID：

MALACARDS：MTC068

OMIM：614052

MESH：D017237