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

Autor: Apollonia Tullo, Patrizia De Bonis, Angelica Bianco, Stefano Zoccolella, Luigi Bisceglia, Vittoria Petruzzella, Silvana Guerriero, Maria De Caro, Valeria Galeandro

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
BMC medical genetics (Online) 19 (2018). doi:10.1186/s12881-018-0644-3
info:cnr-pdr/source/autori:Bianco, Angelica; Bisceglia, Luigi; De Caro, Maria Fara; Galeandro, Valeria; De Bonis, Patrizia; Tullo, Apollonia; Zoccolella, Stefano; Guerriero, Silvana; Petruzzella, Vittoria/titolo: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/doi:10.1186%2Fs12881-018-0644-3/rivista:BMC medical genetics (Online)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:19
BMC Medical Genetics

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

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http://link.springer.com/article/10.1186/s12881-018-0644-3