Mitochondrial myopathy

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ICD9 = | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D017240 |Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.Examples include:
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
  • varying degrees of cognitive impairment and dementia
  • lactic acidosis
  • strokes
  • transient ischemic attacks
  • hearing loss
  • dysmotility
  • weight loss
  • Myoclonic epilepsy and ragged-red fibers (MERRF)
  • progressive myoclonic epilepsy
  • clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain
  • short stature
  • Kearns-Sayre syndrome (KSS)
  • external ophthalmoplegia
  • cardiac conduction defects
  • sensory-neural hearing loss
  • Progressive external ophthalmoplegia (PEO)
  • progressive ophthalmoparesis is the cardinal feature
  • symptomatic overlap with many other mitochondrial myopathies


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