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TMEM70-related mitochondrial encephalo-cardio-myopathy

What is TMEM70-related mitochondrial encephalo-cardio-myopathy?

Mitochondrial encephalo-cardio-myopathy due to TMEM70 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.

Other condition names

  • Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
  • Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
  • Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.