Author(s): Bauer, Dr. Peter, MD, Becker, Alyssa, Qian, Jiang, PhD, Gelman, Benjamin, PhD, MD, Yang, Michele, MD, Koeppen, Arnulf, MD
The observations in this publication confirmed the conclusion that impaired FXN transcription determines the pathologic phenotype of Friedreich ataxia. Read more!
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous FA, the GAA expansion was inherited from the mother, and deletions from the father.
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