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TMEM70-related mitochondrial encephalo-cardio-myopathy

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • ICD-11: 5C53.2Y
  • OMIM: 614052
  • UMLS: C4273660
  • MeSH: -
  • GARD: -
  • MedDRA: -
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