Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
par Campuzano, V;Montermini, L;Moltò, M D;Pianese, Luigi;Cossée, Mireille;Cavalcanti, F;Monros, E;Rodius, F;Duclos, F;Monticelli, Antonella;Zara, F;Cañizares, J;Koutnikova, H;Bidichandani, S I;Gellera, Cinzia;Brice, Alexis;Trouillas, P;De Michele, G;Filla, A;de Frutos, R;Palau, F;Patel, P I;di Donato, S;Mandel, J L;Cocozza, Sergio;Koenig, Michel;Pandolfo, Massimo
Référence Science, 271, 5254, page (1423-1427)
Publication Publié, 1996-03
Référence Science, 271, 5254, page (1423-1427)
Publication Publié, 1996-03
Article révisé par les pairs
Résumé : | Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron. |