Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

Also known as: MC5DN2, mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency, 3-MGCA type IV (3-MGCA-4) (formerly), TMEM70 defect, TMEM70-related mitochondrial encephalo-cardio-myopathy

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 itself.