Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome

Eitemau Tebyg

• Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
  gan: Zeviani, M, et al.
  Cyhoeddwyd: (1991)
• When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
  gan: Paulo José Lorenzoni, et al.
  Cyhoeddwyd: (2014-10-01)
• Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
  gan: Larsson, N G, et al.
  Cyhoeddwyd: (1992)
• Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.
  gan: Antonická, H, et al.
  Cyhoeddwyd: (1999)
• Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome
  gan: Jeeva-Patel, Trishal, et al.
  Cyhoeddwyd: (2021)