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A novel missense mutation and known deleterious microdeletion in SETX causing AOA2. A 3 bp deletion was found at nucleotide positions 343 to 345 of CTT in exon 4, which is a known disease-associated mutation for AOA2. A second missense mutation T1398G was found, resulting in amino acid change I466M in exon 10, a previously unreported mutation. Both mutations are located within the putative protein interaction domain near the N-terminus of the SETX.
