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Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Disease definition

A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


Classification level: Disorder
  • Synonym(s):
    • COXPD16
    • Combined oxidative phosphorylation defect type 16
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 615395
  • UMLS: C4749946
  • MeSH: -
  • GARD: 12892
  • MedDRA: -

Detailed information

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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