Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

<div>(a) Homozygous GAA triplet repeat expansion. (b) Compound heterozygosity with a point mutation in the second allele resulting in a stop codon, as in our patient. (c) Other known compound heterozygous cases resulting in a nonsense mutation from review of literature.</div>

Case Reports in Neurological Medicine

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Figure 1

Figure 1: Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases 

Figure 1 | Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases 