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

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 pre...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Bianco, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6062935/
https://ncbi.nlm.nih.gov/pubmed/30053855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0644-3
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