Article
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) - 8 Mar 1996
Campuzano V, Montermini L, Moltò M D, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani S I, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P I, Di Donato S, Mandel J L, Cocozza S, Koenig M, Pandolfo M
Abstract excerpt
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...
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