MERRF syndrome

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ICD9 = | ICDO = | OMIM = 545000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D017243 |MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease.

Presentation

It involves the following characteristics:
  • 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

    • Causes

    The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.Genes involved include , , MT-TH, , , and .

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