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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
  • ICD-11: 8C73.Y
  • OMIM: 551000
  • UMLS: C1838876
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.