Skip to main content
. 2021 Jul 8;12:678974. doi: 10.3389/fphys.2021.678974

TABLE 4.

Selected patients for Csnk1ε protein quantification in plasma.

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.