- •We found a novel homozygous two-base deletion in the APTX gene.
- •An aberrantly spliced mRNA was created with a cryptic splice site.
- •The aberrant mRNA retained a frameshift mutation and encoded a truncated protein.
- •Immunoblotting did not detect the truncated protein.
- •Patients with a truncation mutation can also have a later onset of ataxia.
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