Article
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
Archives of neurology - 1 Feb 2002
McCabe Dominick J H, Wood Nicholas W, Ryan Fergus, Hanna Michael G, Connolly Sean, Moore David P, Redmond Janice, Barton David E, Murphy Raymond P
Abstract excerpt
BACKGROUND: Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other. Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have an atypical...
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