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

• Main Authors: Angelica Bianco (Author), Luigi Bisceglia (Author), Maria Fara De Caro (Author), Valeria Galeandro (Author), Patrizia De Bonis (Author), Apollonia Tullo (Author), Stefano Zoccolella (Author), Silvana Guerriero (Author), Vittoria Petruzzella (Author)
• Format: Knjiga
• Izdano: BMC, 2018-07-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Leber's hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop additional neurological complications. The cause of this association is not clear. Case present...