Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
Bidichandani
S I
SI
Ashizawa
T
T
Patel
P I
PI
D000328:Adult; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D017124:Conserved Sequence; D005260:Female; D005621:Friedreich Ataxia / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D018911:Trinucleotide Repeats; D000096923:Frataxin
D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin