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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-10-2011
Symbol ATPSD1
Location 8q21
Name ATP synthase deficiency 1
Other name(s)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • Corresponding gene TMEM70
    Other symbol(s) MC5DN2
    Main clinical features
  • neonatal mitochondrial encephalocardiomyopathy
  • neonatal lactic acidosis, hypertrophic cardiomyopathy and/or variable central nervous system involvement and 3-methylglutaconic aciduria
  • selective decrease of ATP synthase concentrations (to <30p100) and a profound loss of both synthetic and hydrolytic activities
  • also infantile onset cataract, early onset gastrointestinal dysfunction and congenital hypertonia with multiple contractures resembling arthrogryposis (PMID: 21147908))
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease