Table 2. Review of the literature on dystrophinopathy-manifesting carriers and results of our study.
| Muscle biopsy | Genetic analyses | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Author | Number of carriers | Number of manifesting carriers (skeletal muscle) | Disease onset in childhooda | Hyper-CKemiaa | Cardiac involvement | Histologya | Immunostaininga (dystrophin) | WB | Cognitive impairment | Blood karyotype | Mutation in DMD gene | Skewed X inactivationa | ||
| Our report | 26 | 26 | 100% | 26 | 100% | 26 | CMP: 2; Abn: 3 | Abn:3 D:15N:0 | Abn:4; Mo:17; N:0 | 15; N:3 | ID:2; LD:5 | N:8 | 26 | B:12 (C:3;Dis:3); M:2 |
| Seemann et al30 | 9 | 9 | 100% | 9 | 100% | NA | CMP: 1 | NA | Mo:4; NA:5 | NA | 5 | Abn: 2 | 8; NA:1 | B:5; NA:2 |
| Song et al32 | 3 | 3 | 100% | 1 | 33% | 3 | CMP: 1 | D:1; NA:2 | Mo:1; NA:2 | NA | LD: 2 | NA | 2 | NA |
| Soltanzadeh et al19 | 860 males±females | 15 | NA | 10 | 67% | NA | CMP: 5; Abn:1 | Abn:3; NA: 7 | Abn:3; Mo:1; NA:6 | NA | NA | N:4;NA:11 | 15 | B:7; NA:1 |
| Piko et al33 | 41 | 3 | 7% | 3 | 7% | 3 | NA | NA | NA | NA | NA | NA | 3 | NA |
| Ceulemans et al34 | 4 | 1 | 25% | 1 | 25% | 1 | NA | N:1 | Mo:1 | NA | LD:1 | N:1 | 1 | B:0; M: 1 |
| Hoogerwaard et al9, 4 | 129 | 27 | 21% | 0 | 0% | 4; NA:24 | CMP: 30 | NA | Abn:1; Mo:4; NA:23 | Abn:6; N:22 | NA | NA | 2; NA:127 | NA |
| Lesca et al16 | 5 | 3 | 60% | 0 | 0% | 3 | CMP: 2 | Abn:1; NA:2 | Mo:1; NA:2 | NA | NA | N:1; NA:4 | 5 | B:2 (C:2) |
| Ogata et al35 | 3 | 0 | 0% | 0 | 0% | 0 | CMP: 3 | NA | Mo:1 (heart)b | NA | NA | NA | NA | NA |
| Doriguzzi et al36 | 2 | 2 | 100% | 1 | 50% | 2 | N:1;NA:1 | NA | Mo:2 | NA | LD:1 | NA | NA | B:1 |
| Sumita et al20 | 107 | 5 | 5% | 2 | 40% | 5 | NA | NA | Abn:2; Mo:2; NA:1 | NA | NA | Abn:1; N:1; NA:3 | 2; NA:3 | B:3 |
| Yoshioka et al15 | 8 | 4 | 50% | 3 | 75% | 3; NA:1 | NA | D:1; NA:3 | NA | NA | ID:2; LD:1 (karyotype: N) | N:3; NA:5 | 4 | B:2 (C:1); NA:1 |
| Pegoraro et al.37 (1995) | 1 | 1 | 100% | 1 | 100% | 1 | NA | NA | Abn:1 | Abn:1; NA:2 | NA | Abn:1 | NA | B:1 |
| Hoffman et al38 | 3 | 3 | 100% | 2 | 67% | 3 | NA | Abn:1; D:2 | Mo:3 | 3 | LD:1 | N:3 | 1 | B:1; M:1 |
| Politano et al6 | 197 | 4 | 2% | NA | NA | NA | CMP:78;PS: 80 | NA | Abn:8/12 (heart)b | NA | NA | NA | 140 | NA |
| Azofeifa et al27 | 11 | 11 | 100% | 11 | 100% | 11 | NA | NA | Mo:10; NA:1 | Abn:10; NA:1 | NA | N:11 | 5 | B:8 (C:4) |
| Matthews et al14 | 10 | 5 | 50% | 2 | 40% | 5 | NA | Abn:5 | Mo:3 | NA | NA | NA | 5 | B:1; M:1 |
| Pegoraro et al29, 37 | 20 | 17 | 85% | 15 | 88% | 16; NA:1 | CMP: 2 | NA | Mo:17 | 16 | ID:4 (2 chromosome abnormalities); LD:1 | Abn:4;N:14;NA:3 | 1 | B:11 (C:11) M:4 (C:3;Dis:1) |
| Bushby et al28 | 8 | 8 | 100% | 6 | 75% | 8 | NA | Abn:4; D:3; NA:1 | Mo:7 | Abn: 6; NA:2 | ID:0; LD:1 | NA | 2 | B:3; NA:4 |
| Sewry et al17 | 10 | 10 | 100% | 10 | 100% | 10 | NA | NA | Mo:7; Abn:3 | Abn:7 | NA | NA | NA | NA |
| Kamakura et al5 | 1 | 1 | 100% | 0 | 0% | 1 | CMP: 1 | Abn:1 | Mo:1 | NA | NA | NA | NA | NA |
| Abbadi et al c,13 | 4 | 1 | 25% | 1 | 100% | 1 | NA | D:1 | NA | NA | NA | N:2; NA:2 | NA | B:1 (C:1) |
| Richards et al c,11 | 2 | 1 | 50% | 1 | 100% | 1 | NA | D:1 | Mo:1 | Abn: 1 | NA | N:2 | 2 | B:1 (C:1) |
Abbreviations: B, blood; C, concordance between X-inactivation bias of normal allele and clinical picture; CMP, cardiomyopathy; D, dystrophy; Dis, discordance between X-inactivation bias of mutated allele and clinical picture; ID, intellectual disability; LD, learning disabilities; M, muscle; Mo, mosaicism; N, normal; NA, not available; PS, preclinical stage. Lupski et al's study (1990) is included in Pegoraro et al37.
a
Number or percentage expressed in comparison with the manifesting carriers population.
b
Analysis on cardiac biopsy realized in heart manifesting carriers (absent or not specified muscle weakness).
c
Reported cases of female twins.