Article
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
American journal of human genetics - 1 Sept 1996
Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S
Abstract excerpt
Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian families. Five patients from three families were compound heterozygotes with expansion on one allele and an i...
Topics
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Child
- Child, Preschool
- Diabetes Complications
- Diabetes Mellitus
- Disease Progression
- Friedreich Ataxia
- Gene Frequency
- Genotype
- Humans
- Italy
- Molecular Sequence Data
- Phenotype
- Point Mutation