Case no. | Phenotype | Multiplex PCR | MLPA del/dup | Exon(s) del/dup | Codons del/dup | Frame shift | Amino acid changea |
---|---|---|---|---|---|---|---|
DS-2 | DMD | No del | dup 2–4 and dup 18–19 |
233; 212 |
77 2/3 70 2/3 |
+ 2 + 2 |
p.Val89MetfsX15 b p.Lys724Gly795fsX1 |
DS-14 | DMD | No del | dup 8–30 | 3679 | 1226 1/3 | + 1 | p.Val218K1412fsX |
DS-15 | ND | No del | dup 8–30 | 3679 | 1226 1/3 | + 1 | p.Val218K1412fsX |
DS-52 | BMD | No del | dup 13 and dup 21–24 |
120 654 |
40 218 |
0 0 |
p.Val495Val535dup p.Asp875Lys1093dup |
DS-50 | BMD | No del | dup 17–24 | 1248 | 428 | 0 | p.Ile665Lys1093dup |
DS-53 | IMD | del 45–51 | del 45–52 and dup 21–23 |
1222; 540 |
407 1/3 180 |
− 1c 0 |
p.Glu2147LeufsX22 C p.Asp875Asn1055dup |
DS-25 | IMD | del 45–51 | del 45–56 | 1952 | 650 2/3 | − 2 | p.Glu2147Ser2798 |
DS-22 | DMD | No del | dup 56–58 and dup 62–64 |
451 198 |
150 1/3 66 |
+ 1 0 |
p.Ser2798Lys2891fsX4 p.Ser3056Asp3122 |