Table 1 Clinical and histopathologic features which may aid the distinction between SEPN1-related and RYR1-related forms of Multi-minicore disease (MmD).
From: Multi-minicore Disease
Feature | SEPN1-related MmD | RYR1-related MmD |
|---|---|---|
Clinical | Â | Â |
Extraocular involvement | - | ++ |
Bulbar involvement | + | + |
Respiratory involvement | +++ | + |
Scoliosis | +++ | ++ |
Malignant hyperthermia susceptibility | - | + |
Histopathology | Â | Â |
Type 1 predominance/uniformity | + | +++ |
Increase internal nuclei | + | +++ |
Multiple large cores ("multicores") | + | +++ |
Numerous small cores ("minicores") | +++ | + |