Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene
نویسندگان
چکیده
منابع مشابه
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
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 ...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2002
ISSN: 0003-9942
DOI: 10.1001/archneur.59.2.296