Article
Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
Acta medica Okayama - 1 Feb 2008
Imai Sayuri, Matsuo Toshihiko, Itoshima Emi, Ohtsuki Hiroshi
Abstract excerpt
We analyzed nucleotide changes in 3 genes, ARIX, PHOX2B, and KIF21A, in 6 patients of 3 families with congenital superior oblique muscle palsy. Three exons of ARIX, 3 exons of PHOX2B, and exons 8, 20, and 21 of KIF21A were amplified by polymerase chain reaction from genomic DNA isolated from the peripheral blood. The DNA fragments were directly sequenced in both directions. In 2 different families, a heterozygous...
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