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    Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

    Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of... by Angelica Bianco, Luigi Bisceglia, Maria Fara De Caro, Valeria Galeandro, Patrizia De Bonis, Apollonia Tullo, Stefano Zoccolella, Silvana Guerriero, Vittoria Petruzzella

    Published 2018
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