Figure 3.

Sequencing of a portion of the PAX3 gene from V:12 (unaffected) and V:11 (affected) in the family. The patient sequence shows a 701T>C mutation in exon5 of the PAX3 gene. The mutation converts amino acid from Leu to Pro. All other affected family members tested also showed this nucleotide change. This alteration was neither seen in any unaffected member of the family nor found in 50 unrelated control subjects (data not shown).