Skip to Main Content (Press Enter)

Logo CNR
  • ×
  • Home
  • Persone
  • Pubblicazioni
  • Strutture
  • Competenze

UNI-FIND
Logo CNR

|

UNI-FIND

cnr.it
  • ×
  • Home
  • Persone
  • Pubblicazioni
  • Strutture
  • Competenze
  1. Pubblicazioni

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
Autori di Ateneo:
TULLO APOLLONIA
Link alla scheda completa:
https://iris.cnr.it/handle/20.500.14243/391960
Pubblicato in:
BMC MEDICAL GENETICS
Journal
  • Utilizzo dei cookie

Realizzato con VIVO | Designed by Cineca | 26.5.0.0 | Sorgente dati: PREPROD (Ribaltamento disabilitato)