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Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Disease definition

A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.


Classification level: Disorder
  • Synonym(s):
    • COXPD10
    • Combined oxidative phosphorylation defect type 10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: I42.2
  • OMIM: 614702
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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