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MeSH Review

MERRF Syndrome

 
 
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Disease relevance of MERRF Syndrome

 

High impact information on MERRF Syndrome

 

Anatomical context of MERRF Syndrome

  • RESULTS: In relation to controls, the copy numbers of mtDNA in leukocytes of patients with MELAS or MERRF syndrome were significantly higher at a young age but lower at an advanced age [7].
 

Gene context of MERRF Syndrome

References

  1. Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. Zhou, L., Chomyn, A., Attardi, G., Miller, C.A. J. Neurosci. (1997) [Pubmed]
  2. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Calabresi, P.A., Silvestri, G., DiMauro, S., Griggs, R.C. Muscle Nerve (1994) [Pubmed]
  3. Upregulation of Matrix Metalloproteinase 1 and Disruption of Mitochondrial Network in Skin Fibroblasts of Patients with MERRF Syndrome. Ma, Y.S., Chen, Y.C., Lu, C.Y., Liu, C.Y., Wei, Y.H. Ann. N. Y. Acad. Sci. (2005) [Pubmed]
  4. Anesthetic management of a patient with MERRF syndrome. Vilela, H., Garcìa-Fernández, J., Parodi, E., Reinoso-Barbero, F., Durán, P., Gilsanz, F. Paediatric anaesthesia. (2005) [Pubmed]
  5. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. Pang, C.Y., Huang, C.C., Yen, M.Y., Wang, E.K., Kao, K.P., Chen, S.S., Wei, Y.H. J. Formos. Med. Assoc. (1999) [Pubmed]
  6. Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies. Coquet, M., Degoul, F., Vital, A., Malgat, M., Mazat, J.P., Louvet-Giendaj, C., Fontan, D., Tison, F., Diry, M., Marsac, C. Neuromuscul. Disord. (1993) [Pubmed]
  7. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Liu, C.S., Cheng, W.L., Lee, C.F., Ma, Y.S., Lin, C.Y., Huang, C.C., Wei, Y.H. Acta neurologica Scandinavica. (2006) [Pubmed]
  8. Antimyoclonic effect of levetiracetam in MERRF syndrome. Mancuso, M., Galli, R., Pizzanelli, C., Filosto, M., Siciliano, G., Murri, L. J. Neurol. Sci. (2006) [Pubmed]
  9. High Prevalence of the COII/tRNALys Intergenic 9-bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF Syndrome. Liu, C.S., Cheng, W.L., Chen, Y.Y., Ma, Y.S., Pang, C.Y., Wei, Y.H. Ann. N. Y. Acad. Sci. (2005) [Pubmed]
  10. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Mancuso, M., Filosto, M., Mootha, V.K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G. Neurology (2004) [Pubmed]
  11. Mitochondrial encephalomyopathy of mixed MELAS type. Bertrand, E., Fidziańska, A., Schmidt-Sidor, B., Mendel, T. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences. (1996) [Pubmed]
 
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