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Figure 2 | BMC Medical Genetics

Figure 2

From: Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Figure 2

A novel mutation in exon 1 of the myostatin gene. A part of the sequencing results for exon 1 of the myostatin gene from a DMD patient (case 712) is shown (patient). Overlapping G and C peaks are present at the 283rd nucleotide of the myostatin cDNA (c.283G>G/C) (Top). The single nucleotide change from G to C at the 283rd nucleotide of the myostatin cDNA (c.283G>C) changed a GAT codon to a CAT codon at the position corresponding to the 95th amino-acid residue of myostatin (p.95D>H)(boxes). The wild type sequence is shown below (control).

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