Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
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Sign InDescription
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.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
102