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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 Bianco, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria

    Published in BMC medical genetics
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