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GTR Home > Conditions/Phenotypes > Mitochondrial complex V (ATP synthase) deficiency nuclear type 2


Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> 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. [from ORDO]

Available tests

68 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MC5DN2, TMEM70
    Summary: transmembrane protein 70

Clinical features


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