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
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
