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last update : 10-04-2019
Symbol MTDPS10
Location 7q34
Name mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Other name(s)
  • congenital cataract and mitochondrial myopathy
  • Sengers syndrome
  • Corresponding gene AGK
    Other symbol(s) CACM
    Main clinical features
  • congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis, hypotonia, intellectual disability; two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance
  • muscular hypotonia and delayed motor development, hypertrophic
  • cardiomyopathy progressive and the cause of premature death, exercise intolerance, and lactic acidosis
    Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    mental retardation
    Type disease