Mitochondrial myopathy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.

Examples include:

• • varying degrees of cognitive impairment and dementia
  • lactic acidosis
  • strokes
  • transient ischemic attacks
  • hearing loss
  • dysmotility
  • weight loss

• • 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

• • external ophthalmoplegia
  • cardiac conduction defects
  • sensory-neural hearing loss

• • progressive ophthalmoparesis is the cardinal feature
  • symptomatic overlap with many other mitochondrial myopathies

Template:PNS diseases of the nervous system Template:Mitochondrial diseases

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