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

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

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

2018

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

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.

Keywords:

Cancer research
Leber's hereditary optic neuropathy
Genetics
Heteroplasmy
Epilepsy
Optic neuropathy
Optic nerve
Biology
Mutation
Penetrance
Intellectual disability
Bioinformatics
Mitochondrial DNA

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