Table 2. Muscle morphology in patients II-2, II-6, II-7 and III-1.
| II-2 | II-6 | II-7 | III-1 | |
|---|---|---|---|---|
| Age of biopsy (years) | 24 | 17 | 15 | 4 |
| Biopsied muscle | vastus lat. | vastus lat. | vastus lat. | vastus lat. |
| Genetic phenotype | CM+HHR | HHR | CM+HHR | CM |
| Variability of fiber size | ++ | (+) | ++ | + |
| Internal nuclei | (+) | - | (+) | (+) |
| Core like lesions (NADH) | ++ | (+) | + | (+) |
| Endomysial Fibrosis | (+) | - | (+) | (+) |
| Fatty replacement | ++ | - | ++ | + |
| Inclusions (Desmin) | + | - | ++ | (+) |
| Inclusions (αβ Crystallin) | - | - | (+) | - |
| Typ II fiber predominance | + | + | + | (+) |
| Fiber necrosis | - | - | - | - |
| Fiber regeneration | - | - | - | - |
| CD56 positive fibers | - | - | + | + |
| Endomysial lymphozytes | + | - | - | - |
| Minicores (EM) | + | - | + | - |
EM = electron microscopy