TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Désir, Julie; Coppieters, Frauke; Van Regemorter, Nicole; De Baere, Elfride; Abramowicz, Marc; Cordonnier, Monique

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TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

par Désir, Julie

;Coppieters, Frauke ;Van Regemorter, Nicole

;De Baere, Elfride ;Abramowicz, Marc

;Cordonnier, Monique

Référence Molecular vision, 18, page (1849-1857)
Publication Publié, 2012

Article révisé par les pairs

Résumé :

Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence was disputed until a locus, optic atrophy 6 (OPA6), was mapped to 8q. Recently, a second locus, OPA7, was found on 11q in several families from North Africa, with one presumably ancestral mutation of transmembrane protein 126A (TMEM126A). Here we report an independently ascertained large consanguineous family of Moroccan descent with three siblings affected with nonsyndromic arOA.

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