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Up to: Mitochondrial respiratory chain complex deficiency
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.
This condition has no sub-types.