Mitochondrial complex V (ATP synthase) deficiency nuclear type 2

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Description

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.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

Genes

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