From: MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD
No. | Phenotype | Family history | Exon/Intron | Sequencing results | Change of protein | Carrier status of mother |
---|---|---|---|---|---|---|
1 | DMD | Unknown | Exo 2 | c.70 T > C | p.Trp24Arg | Unknown |
2 | DMD | Unknown | Exo 2 | c.77A > G | p.Asn26Ser | Yes |
3 | DMD | No | Exo 6 | c.436C > T | p.Gln146X | No |
4 | DMD | Unknown | Int 16 | c.1993-37 T > G/ | Unknown | Unknown |
Int 49 | c.7200 + 53C > G | |||||
5 | DMD | Unknown | Exo 19 | c.2302C > T | p.Arg768X | Yes |
6 | DMD | Unknown | Int 20 | c.2623-34C > T/ | Unknown | Yes |
Int 66 | c.9649 + 15 T > C | |||||
7 | DMD | Unknown | Int 21 | c.2804-1 G > T | Unknown | No |
8 | DMD | Unknown | Exo 29 | c.4057 G > T | p.Glu1353X | Unknown |
9 | DMD | Unknown | Exo 32 | c.4375C > T | p.Arg1459X | Yes |
10 | DMD | Yes | Int 32 | c.4518 + 5 G > A | Unknown | Yes |
11 | DMD | Unknown | Exo 34 | c.4729C > T | p.Arg1577X | Unknown |
12 | DMD | Unknown | Exo 37 | c.5234 G > A | p.Arg1745His | Unknown |
13 | DMD | Unknown | Exo 44 | c.6373C > T | p.Gln2125X | Yes |
14 | DMD | Unknown | Exo 48 | c.7096C > A | p.Gln2366Lys | Unknown |
15 | DMD | No | Exo 52 | c.7657C > T | p.Arg2553X | Yes |
16 | DMD | Yes | Int 61 | c.9164-3_9164-1delCAG | Unknown | Yes |
17 | DMD | Unknown | Int 66 | c.9649 + 15 T > C | Unknown | Yes |
18 | DMD | Unknown | Exo 68 | c.9934A > C | p.Lys3312Thr | Yes |
19 | DMD | Unknown | Exo 70 | c.10141C > T | p.Arg3381X | Unknown |
20 | DMD | Unknown | Int 70 | c.10223 + 1 G > A | Unknown | Yes |