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 |