Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese… - Science, 1996 - science.org
V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, F Cavalcanti, E Monros…
Science, 1996•science.orgFriedreich'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. The 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.
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. The 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.
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. The 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.
AAAS