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Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases
  1. V Carellia,b,
  2. M L Valentinob,
  3. R Liguorib,
  4. S Melettib,
  5. R Vetrugnob,
  6. F Provinib,
  7. G L Mancardic,
  8. F Bandinic,
  9. A Baruzzib,
  10. P Montagnab
  1. aDoheny Eye Institute, University of Southern California, Los Angeles, California, bIstituto di Clinica Neurologica, Universita' di Bologna, Bologna, Italy, cDepartment of Neurological and Visual Sciences, University of Genoa, Genoa, Italy
  1. D Valerio Carelli, Istituto di Clinica Neurologica, Universita' di Bologna, Via U.Foscolo 7, 40123 Bologna, Italycarelli{at}neuro.unibo.it

Abstract

The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

  • LHON
  • myoclonus
  • mitochondria

https://doi.org/10.1136/jnnp.71.6.813

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