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
Articolo
Data di Pubblicazione:
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.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
LHON; Penetrance; Intellectual disability; Mitochondrial DNA; MTRNR; M.3460G
Elenco autori:
Tullo, Apollonia
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