Patient 1 | Patient 2 | |||
---|---|---|---|---|
Biopsy 1 (27 years) | Biopsy 2 (46 years) | Biopsy 1 (28 years) | Biopsy 2 (39 years) | |
+, ++, +++: present, moderate, increased; –: absent. | ||||
NV, normal value. | ||||
Light microscopy | ||||
Type I fibres, NV = 35–50% | 53% | 40% | 29% | 17% |
Type II fibres, NV = 50–65% | 47% | 60% | 71% | 83% |
Abnormal variation in fibre size | ++ | +++ | +++ | +++ |
Rimmed vacuoles | + | – | + | ++ |
Ragged red fibres | – | – | – | – |
Signs of inflammation | – | – | – | + |
Intrafascicular fat | + | +++ | + | + |
Internal nuclei, N = 0–3% | 0% | 50% | 3% | 47% |
Fibre splitting | – | ++ | – | – |
Atrophic fibres with pyknotic nuclear clumps | – | ++ | + | + |
Checkerboard pattern | NV | NV | NV | NV |
Electron microscopy | ||||
Myelin figures | + | – | + | + |
Thick filaments (14–18 nm) | + | – | + | + |
Intranuclear inclusions | – | – | – | – |