Research Article
Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
Table 1
Clinical data, and genetic and immunohistochemical results for
our patients.
| | Age (years) | Age
at onset
(years) | Consanguinity | Immunochemistry | Deleted exons | Other
criterion | Dys-C | α-SG | γ-SG |
| 1 | 13 | 5 | No | − | +++ | +++ | 50, 51, and 52 | Elevated
SCK activity at the mother | 2 | 9 | 3 | No | − | +++ | +++ | 45, 47, 48, 50,
51, and 52 | Maternal
uncle died | 3 | 12 | 4 | No | − | +++ | +++ | 51 and 52 | Elevated
SCK activity at the mother | 4 | 16 | 5 | No | − | +++ | +++ | − | Elder brother with the same symptoms | 5 | 11 | 3 | Yes | − | +++ | +++ | 45 and 48 | − | 6 | 13 | 3 | No | − | +++ | +++ | 45 | − | 7 | 12 | 5 | No | +/− | +++ | +++ | 12, 13, 17, 19, 43, 44, 45, 47, and 48 | — | 8 | 13 | 5 | Yes | +/− | +++ | +++ | 3, 4, 6, and 8 | − | 9 | 13 | 2 | Yes | + | + | + | 48 | 521del
T in γ-SG
gene not found | 10 | 19 | 11 | Yes | +++ | + | + | Pm | 521del
T in γ-SG
gene not found |
|
|
+++: normal;
+: reduced; +/−: irregular; − : absent : patient number; SG: sarcoglycan; Dys: dystrophin;
SCK: serum creatine kinase.
|