TABLE 4.
Code | Mutation | DMD/BMD | Age at loss of ambulation | Age at plasma sampling |
A | del exons 3-7 (out of frame) | BMD | 20 years | 33 years 7 m |
B | del exon 13 | BMD | Ambulant at sampling | 7 years 2 m |
C | del exon 43 | DMD | Ambulant at sampling | 8 years |
D | del exon 45 | DMD | Ambulant at sampling | 9 years |
E | del exon 45 | DMD | Ambulant at sampling | 9 years |
F | del exon 45 | DMD | Ambulant at sampling | 6 years |
G | del exon 45 | DMD | Ambulant at sampling | 7 years |
H | del exon 45 | DMD | Ambulant at sampling | 6 years |
I | del exon 45-50 | DMD | Ambulant at sampling | 10 years |
L | del exon 45-50 | DMD | Ambulant at sampling | 12 years |
M | del exon 45-50 | DMD | Ambulant at sampling | 7 years |
N | del exon 49-50 | DMD | Ambulant at sampling | 7 years |
O | del 50 | DMD | Ambulant at sampling | 10 years |
P | dup exons 65-79 | DMD | Ambulant at sampling | 19 years |
Q | c.4117c > T, p.Q1373X | DMD | Ambulant at sampling | 6 years |
R | c.9204-9207del,p.N3068K, fs*20 | DMD | Ambulant at sampling | 8 years |
Mutation, phenotype and age at sampling are listed.