Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.


OBJECTIVE To investigate the mechanisms underlying myoclonus in Leber hereditary optic neuropathy (LHON). METHODS Five patients and one unaffected carrier from two Italian families bearing the homoplasmic 11778/ND4 and 3460/ND1 mutations underwent a uniform investigation including neurophysiologic studies, muscle biopsy, serum lactic acid after exercise… (More)
DOI: 10.1212/01.wnl.0000295505.74234.d0


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