• Title of article

    Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation

  • Author/Authors

    Finsterer, Josef Krankenanstalt Rudolfstiftung - Vienna, Austria , Geza Kovacs, Gabor Institute of Neurology - Medical University of Vienna - Vienna, Austria

  • Pages
    5
  • From page
    45
  • To page
    49
  • Abstract
    Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome was first described by Tsairis, et al. in 1973.1 The phenotypic spectrum broadened with the description of > 320 MERRF- patients since then (Table 1).2 Here, we report further phenotypic variability.
  • Keywords
    Mitochondrial Disorders , Metabolic Myopathy , Lactate , Epilepsy , Psychiatric , Multi-Organ Disorder Syndrome
  • Journal title
    Astroparticle Physics
  • Serial Year
    2017
  • Record number

    2427765

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2427765