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

Academic Article
Publication Date:
2018
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.
Iris type:
01.01 Articolo in rivista
Keywords:
LHON; Penetrance; Intellectual disability; Mitochondrial DNA; MTRNR; M.3460G
List of contributors:
Authors of the University:
Handle:
https://iris.cnr.it/handle/20.500.14243/391960
Published in:
BMC MEDICAL GENETICS
Journal