Table 1. Characterization of FSHD-1 patients.
Patientnumber | Age in years | Gender | Eco RI+fragment (kb) | Eco RI+ Bln I fragment (kb) | MRCS (1–5) | MB&MT culture | RNA MB&MT | Proteins (MT) | RNA(muscle biopsy) | Proteins(muscle biopsy) | Hypertrophy |
1 | 22 | M | 34 | 31 | 4 | + | + | + | − | + | + |
2 | 54 | M | 33 | 30 | 4 | + | + | + | + | + | − |
3 | 42 | M | 32 | 29 | 4 | + | + | + | + | + | + |
4 | 37 | M | 27 | 24 | 4 | + | + | + | − | − | + |
5 | 66 | F | 27 | 24 | 4 | + | + | − | + | − | + |
6 | 72 | F | 37 | 34 | 4 | + | + | − | − | − | − |
7 | 57 | F | 15 | 12 | 4 | + | + | − | − | − | + |
Numbers of patients correspond to the number shown on the presented Western blot figures. MRCS (Medical Research Council Scale) is a system for grading muscle strength from 0 to 5. (0- Zero, 1- Trace, 2- Poor, 3- Fair, 4-Good, and 5- Normal). RNA was isolated form myoblasts (MB), myotubes (MT) and muscle tissue. Protein samples are from MT and muscle tissue. Gender of patients is indicated as “m” for male and “f” for female. (+) indicates if a parameter/sample was taken and (-) when not.