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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Detalles Bibliográficos
Autores principales: Bianco, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062935/
https://www.ncbi.nlm.nih.gov/pubmed/30053855
http://dx.doi.org/10.1186/s12881-018-0644-3

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