Bianco, Angelica;
Bisceglia, Luigi;
De Caro, Maria Fara;
Galeandro, Valeria;
De Bonis, Patrizia;
Tullo, Apollonia;
Zoccolella, Stefano;
Guerriero, Silvana;
Petruzzella, Vittoria
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
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Media type:
E-Article
Title:
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
Contributor:
Bianco, Angelica;
Bisceglia, Luigi;
De Caro, Maria Fara;
Galeandro, Valeria;
De Bonis, Patrizia;
Tullo, Apollonia;
Zoccolella, Stefano;
Guerriero, Silvana;
Petruzzella, Vittoria
imprint:
Springer Science and Business Media LLC, 2018