mutation 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. The disease is Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet_1194). Also known as: Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency, Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency.