[go: up one dir, main page]

MERRF Syndrome

"MERRF Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)


expand / collapse Publications
This graph shows the total number of publications written about "MERRF Syndrome" by people in this website by year, and whether "MERRF Syndrome" was a major or minor topic of these publications.
Below are the most recent publications written about "MERRF Syndrome" by people in Profiles.
  1. Correcting human mitochondrial mutations with targeted RNA import. Proc Natl Acad Sci U S A. 2012 Mar 27; 109(13):4840-5.
    View in: PubMed
  2. Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes. Coron Artery Dis. 2003 May; 14(3):197-205.
    View in: PubMed
  3. mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. Biochem Biophys Res Commun. 1997 Oct 09; 239(1):139-45.
    View in: PubMed
  4. MERRF syndrome with overwhelming lactic acidosis. Pediatr Neurol. 1996 Jan; 14(1):57-61.
    View in: PubMed
  5. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol. 1993 Sep-Oct; 14(5):1119-37.
    View in: PubMed