Figure 3

A novel mutation in exon 2 of the myostatin gene. A part of the sequencing results for exon 2 of the myostatin gene of one DMD case (case 549) is shown. Overlapping peaks were observed at two locations corresponding to c.466C>C/A and c.490G>G/A in one DNA sample (Top). Subcloning sequencing disclosed two different sequences: one had a completely normal sequence (Bottom 2), whereas the other one had two nucleotide changes (Bottom 1). The G to A change at the 490^th nucleotide of the myostatin cDNA (c. 490G>A) matched with the previously described p.164E>K mutation (box). The other nucleotide change from C to A at the 466^th nucleotide of the myostatin cDNA (c.466C>A) changes a CTA codon for Lys to a ATA codon for Ile at the position corresponding to the 156^th amino-acid residue of myostatin (p.156L>I) (box).