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Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

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.



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Autors principals: Carelli, V, Valentino, M, Liguori, R, Meletti, S, Vetrugno, R, Provini, F, Mancardi, G, Bandini, F, Baruzzi, A, Montagna, P
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2001
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1737658/
https://ncbi.nlm.nih.gov/pubmed/11723211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.71.6.813
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