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
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness / La Morgia C.; Caporali L.; Tagliavini F.; Palombo F.; Carbonelli M.; Liguori R.; Barboni P.; Carelli V.. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - ELETTRONICO. - 5:3(2019), pp. e329.1-e329.3. [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 | |
|---|---|---|---|
|
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.pdf
accesso aperto
Tipo:
Versione (PDF) editoriale
Licenza:
Licenza per Accesso Aperto. Creative Commons Attribuzione - Non commerciale - Non opere derivate (CCBYNCND)
Dimensione
326.17 kB
Formato
Adobe PDF
|
326.17 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
