Table 1.
Clinical, Biochemical, and Molecular Summary of Patients Showing Fibers with Histochemical Phosphorylase Activity in Muscle Biopsy
| Patient | Age at biopsy | Serum CK (U/l) | Myoglo- binuria | Biopsied muscle | GP activity | GP protein | M-GP mRNA | Mutation | HC+ fibers (%) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 28 | 4000 | Yes | Triceps | 0 | No | + | − /49 | 5.2 |
| 2 | 69 | 740 | No | Quad. | 1% | No | + | − /49 | 0.3 |
| 3 | 59 | 200 | No | Biceps | 3% | No | ++ | − /396 | 0.2 |
| 4 | 51 | 3100 | Yes | Quad. | 0 | No | + | 49 /204 | 6.9 |
| 5 | 17 | 2200 | Yes | Triceps | 0 | No | − | 49 /49 | 0.1 |
Glycogen phosphorylase activity (assessed by spectrophotometric assay on muscle homogenate) is expressed as % of normal control. Number of fibers showing positivity at the phosphorylase histochemical stain (HC+) is expressed as % of total number of fibers in the biopsy slice.