Ragged red fibre is associated with: March 2013
Correct Answer: MERRF syndrome
Description: Ans. B i.e. MERRF syndrome MERRF syndrome/Myoclonic Epilepsy with Ragged Red Fibers It is a mitochondrial disease. "Ragged Red Fibers" - 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 It is extremely rare and has varying degrees of expressivity owing to heteroplasmy The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome in over 80% of cases. Like many mitochondrial diseases, there is no cure for MERRF Treatment is primarily symptomatic. High doses of Coenzyme Q10 and L-Carnitine have been tried with little success
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