PMC9130841_01
Results of DNA analysis. A nonsense mutation C>T substitution (c.6283C>T)
changes the codon of CGA = Arginine to TGA = stop codon (see region of interest). This
nonsense mutation predicts premature termination of the protein, which would result in
a nonfunctional protein. The arrow indicates the new mutation site. The rectangular
box represents region of interest.
10.1177_2050313X221100881-fig1.jpg
PMC9130841_01_10.1177_2050313X221100881-fig1.jpg
fig1-2050313X221100881
As shown in Figure 1, the proband's mother carried the DMD heterozygous mutation c.6283C>T, and the proband's father was wild type.