MERRF syndrome

(redirected from Myoclonic Epilepsy with Ragged Red Fibers)

MERRF syndrome

 
myoclonus with epilepsy and ragged red fibers; a familial type of mitochondrial encephalopathy, of maternal (mitochondrial) inheritance.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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We read with interest the case report by Ban et al .[1] about a 17-year-old male with myoclonic epilepsy with ragged red fibers (MERRF) syndrome being attributed to the mitochondrial tRNA glutamic acid( tRNA [Glu] )variant mitochondrial 14709T>C.
Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers
Soon after this, point mutations in the mitochondrial tRNA genes were found in patients with complex disorders such as myoclonic epilepsy with ragged red fibers and mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes [6, 7].
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle.
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

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