Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8
La Morgia, C., Caporali, L., Tagliavini, F., Palombo, F., Carbonelli, M., Liguori, R., et al. (2019). First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness. NEUROLOGY. GENETICS, 5(3), 1-3 [10.1212/NXG.0000000000000329].
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
La Morgia C.
;Caporali L.;Tagliavini F.;Liguori R.;Carelli V.
2019
Abstract
Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8| File | Dimensione | Formato | |
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First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.pdf
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