Muscular dystrophies and mitochondrial myopathies Quiz: Ace Your Exams
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A 20-year-old woman is evaluated in the emergency department for a suspected generalized tonic-clonic seizure. The episode occurred an hour ago when she was with her roommate, who states the patient started uncontrollably flexing and extending her upper and lower limbs for 1 minute. She has a history of recurrent seizures for the past 2 years, and she lost partial vision due to occipital lobe infarction last year. Family history is not available because the patient was adopted as a child. Neurological examination shows decreased sensation and weakness of bilateral lower extremities. The patient is admitted for further evaluation. Serum lactate levels are 3.3 mmol/L. Skeletal muscle biopsy shows proliferation of mitochondria that appear bright red compared to the blue myofibers when stained with Gomori trichrome stain. This patient’s condition is best described as which of the following?
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