Table 2 Large rearrangements contrary to reading frame rule
From: MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD
Genotype | IF/OF | Phenotype (No.) |
|---|---|---|
DelEx3-6 | OF | DMD(1)/BMD(2) |
DelEx3-7 | OF | DMD(15)/BMD(1) |
DelEx3-10 | IF | DMD (1) |
DelEx3-13 | IF | DMD (1) |
DelEx3-26 | IF | DMD (2) |
DelEx3-27 | IF | DMD (2) |
DelEx3-29 | IF | DMD (1)/BMD (1) |
DelEx3-30 | IF | DMD (1) |
DelEx3-33 | IF | DMD (1) |
DelEx3-37 | IF | DMD (1) |
DelEx3-44 | IF | DMD (3) |
DelEx5-33 | IF | DMD (1) |
DelEx6-48 | IF | DMD (1) |
DelEx8-21 | IF | DMD(3)/BMD(1) |
DelEx10-30 | IF | DMD (1) |
DelEx10-34 | IF | DMD (1) |
DelEx10-41 | IF | DMD (1) |
DelEx10-44 | IF | DMD (1) |
DelEx12-43 | IF | DMD (1) |
DelEx13-34 | IF | DMD (1) |
DelEx14 | IF | DMD (1) |
DelEx17-30 | IF | DMD (1) |
DelEx26-34 | IF | DMD (1) |
DelEx34 | IF | DMD (1) |
DelEx44 | OF | DMD(9)/BMD(1)/IMD(1) |
DelEx44-45 | IF | DMD (1) |
DelEx45-46 | IF | DMD (1) |
DelEx45-47 | IF | DMD(12)/BMD(11) |
DelEx45-48 | IF | DMD(9)/BMD(2) |
DelEx45-49 | IF | DMD(4)/BMD(2) |
DelEx45-52 | OF | DMD(19)/BMD(1)/IMD(1) |
DelEx45-53 | IF | DMD(3)/BMD(1) |
DelEx45-55 | IF | DMD (1) |
DelEx48 | IF | DMD (3) |
DelEx48-49 | IF | DMD (2)/BMD(1) |
DelEx48-50 | OF | DMD (29)/BMD(1) |
DelEx48-51 | IF | DMD (1)/BMD(1) |
DelEx48-67 | IF | DMD (1) |
DelEx50 | OF | DMD (15)/BMD(1) |
DelEx51 | OF | DMD (33)/BMD(1) |
DelEx51-52 | IF | DMD (3)/BMD(2) |
DelEx51-53 | OF | DMD (8)/IMD(1) |
DelEx51-55 | OF | DMD (4)/BMD(1) |
DelEx63 | OF | BMD(1) |
DelEx64 | IF | DMD (1) |
DupEx2 | OF | DMD (11)/BMD(1) |
DupEx2-7 | IF | DMD (2) |
DupEx2-44 | OF | IMD (1) |
DupEx3-4 | IF | DMD (2) |
DupEx3-5 | IF | DMD (1) |
DupEx3-6 | OF | DMD (1)/BMD(1) |
DupEx3-7 | OF | DMD (5)/BMD(1)/IMD (1) |
DupEx3-9&17-41 | IF | DMD (1) |
DupEx3-15 | IF | DMD (1) |
DupEx3-18 | IF | DMD (1) |
DupEx3-39 | IF | DMD (1) |
DupEx3-41 | IF | DMD (1) |
DupEx3-44 | IF | DMD (1) |
DupEx8-44 | OF | BMD (1) |
DupEx19-43&49-51 | OF | IMD (1) |
DupEx19-44 | IF | DMD (2) |
DupEx21-25 | IF | DMD (1) |
DupEx21-37 | IF | DMD (2) |
DupEx21-44 | IF | DMD (1) |
DupEx31-44 | IF | DMD (1) |
DupEx45-49 | IF | DMD (1) |
DupEx49-55 | IF | DMD (1) |
DupEx53-63 | IF | DMD (1) |