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Lethal infantile mitochondrial myopathy

Disease definition

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

ORPHA:254857

Classification level: Disorder
  • Synonym(s):
    • LIMD
    • LIMM
    • Lethal infantile mitochondrial disease
  • Prevalence: -
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 551000
  • UMLS: C1838876
  • MeSH: -
  • GARD: -
  • MedDRA: -
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