Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.
We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.
Lucotte
G
G
Regional Center of Neurogenetics, Maison Blanche Hospital, Reims, France.
Berriche
S
S
David
F
F
Bathelier
C
C
Turpin
J C
JC
D000328:Adult; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005602:France; D005621:Friedreich Ataxia / Q000235:genetics*; D005819:Genetic Markers; D016678:Genome; D006801:Humans; D008297:Male; D010375:Pedigree; D018911:Trinucleotide Repeats / Q000235:genetics*
D005819:Genetic Markers