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Xu, R. Myoclonic Epilepsy with Ragged-Red Fibers. Encyclopedia. Available online: https://encyclopedia.pub/entry/4427 (accessed on 21 September 2026).
Xu R. Myoclonic Epilepsy with Ragged-Red Fibers. Encyclopedia. Available at: https://encyclopedia.pub/entry/4427. Accessed September 21, 2026.
Xu, Rita. "Myoclonic Epilepsy with Ragged-Red Fibers" Encyclopedia, https://encyclopedia.pub/entry/4427 (accessed September 21, 2026).
Xu, R. (2020, December 23). Myoclonic Epilepsy with Ragged-Red Fibers. In Encyclopedia. https://encyclopedia.pub/entry/4427
Xu, Rita. "Myoclonic Epilepsy with Ragged-Red Fibers." Encyclopedia. Web. 23 December, 2020.
Myoclonic Epilepsy with Ragged-Red Fibers
Edit

Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.

genetic conditions

References

  1. Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. A new mitochondrial transfer RNAPro gene mutation associated withmyoclonic epilepsy with ragged-red fibers and other neurological features. ArchNeurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576.
  2. Cardaioli E, Malfatti E, Da Pozzo P, Gallus GN, Carluccio MA, Rufa A, Volpi N,Dotti MT, Federico A. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.J Neurol Sci. 2011 Apr 15;303(1-2):142-5. doi: 10.1016/j.jns.2010.12.020.
  3. del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M,Artuch R, Montoya J. New mitochondrial DNA mutations in tRNA associated withthree severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0.
  4. Deschauer M, Müller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S.Hearing impairment is common in various phenotypes of the mitochondrial DNAA3243G mutation. Arch Neurol. 2001 Nov;58(11):1885-8.
  5. DiMauro S, Hirano M. MERRF. 2003 Jun 3 [updated 2015 Jan 29]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1520/
  6. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta. 2004 Jul23;1658(1-2):80-8. Review.
  7. Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S,Siciliano G. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.Neurology. 2004 Jun 8;62(11):2119-21.
  8. Mancuso M, Petrozzi L, Filosto M, Nesti C, Rocchi A, Choub A, Pistolesi S,Massetani R, Fontanini G, Siciliano G. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. Biochem Biophys Res Commun. 2007 Mar23;354(4):1058-60.
  9. Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM,Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in aMELAS/MERFF phenotype. Arch Neurol. 2004 Feb;61(2):269-72.
  10. Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE,Rowland LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutationsaffecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene anetiologic hot spot? J Clin Invest. 1993 Dec;92(6):2906-15.
  11. Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I,Kaji R, Kimura J. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) genedetected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys ResCommun. 1995 Sep 5;214(1):86-93.
  12. Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J,Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.Neuromuscul Disord. 2005 May;15(5):364-71.
  13. Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, HayesCM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. Neurology. 2004 Apr 27;62(8):1420-3.
  14. Teive HA, Munhoz RP, Muzzio JA, Scola RH, Kay CK, Raskin S, Werneck LC, Bruhn H. Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Casereport. Mov Disord. 2008 Jun 15;23(8):1191-2. doi: 10.1002/mds.21990.
  15. Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H,Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R. Mutations inthe mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinaldegeneration, myopathy and epilepsy. Eur J Hum Genet. 2012 Aug;20(8):897-904.doi: 10.1038/ejhg.2012.44.Aug;20(8):910.
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