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.
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
3-MGCA type IV (3-MGCA-4) (formerly)
related
MC5DN2
exact
TMEM70 defect
related
mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
exact
mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
exact
mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
exact
mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
exact
SPAC1834.10c