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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Bianco, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha: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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