label: mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
label_lc: mitochondrial complex v (atp synthase) deficiency, nuclear type 2
description: 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.