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- W2936890448 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" @default.
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- W2936890448 date "2019-04-08" @default.
- W2936890448 modified "2023-10-03" @default.
- W2936890448 title "First <i>TMEM126A</i> missense mutation in an Italian proband with optic atrophy and deafness" @default.
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- W2936890448 doi "https://doi.org/10.1212/nxg.0000000000000329" @default.
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