Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
Megan M. Shen,
Christian Rummey,
David R. Lynch
Abstract:ObjectiveMost individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on one allele and a mutation on the other. The study aim was to examine phenotypic variation among compound heterozygotes.MethodsData on FXN mutations were obtained from the Friedreich Ataxia Clinical Outcome Measures Study (FA‐COMS). We compared clinical features i… Show more
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