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SB_Genetics (Pediatrics Royal College 2018) > MERRF > Flashcards

Flashcards in MERRF Deck (2)
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1
Q

What is the inheritance for MERRF?

A

Mitochondrial

2
Q

What are the clinical features of MERRF?

A
  1. Myoclonus –> seizures, ataxia, weakness –> dementia
  2. Hearing loss
  3. Normal early childhood development
  4. Short stature
  5. Optic atrophy
  6. Pigmentary renal changes
  7. Abnormal fat distribution
  8. Cardiomyopathy
  9. WPW syndrome
  10. Elevated lactate and pyruvate