These data support that the typical FRDA phenotype is driven by frataxin deficiency, especially severe in compound heterozygotes with minimal/no function mutations, whereas the heterogeneous presentations of those with partial function mutations may indicate other contributing factors to FRDA pathogenesis.
Sunday, February 25, 2024
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
Shen MM, Rummey C, Lynch DR. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. Ann Clin Transl Neurol. 2024 Feb 23. doi: 10.1002/acn3.52027. Epub ahead of print. PMID: 38396238.
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