Article
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.
BMC medical genetics - 27 Jul 2018
Bianco Angelica, Bisceglia Luigi, De Caro Maria Fara, Galeandro Valeria, De Bonis Patrizia, Tullo Apollonia, Zoccolella Stefano, Guerriero Silvana, Petruzzella Vittoria
Abstract excerpt
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 PRESENTATION: We...
Topics
- Adult
- Aged
- DNA, Mitochondrial
- Epilepsy
- Female
- Humans
- Intellectual Disability
- Male
- Microsatellite Repeats
- Middle Aged
- Mitochondria
- Mutation
- Optic Atrophy, Hereditary, Leber