Table 1 History, clinical and laboratory finding of patients
| Â | Â | #1 | #2 | #3 | #4 | #5 |
|---|---|---|---|---|---|---|
Age | 30 | 42 | 35 | 62 | 50 | |
sex | M | M | F | M | F | |
Other risk factor | None | DM/HTN | None | DM/HTN | none | |
Blood pressure (mmHg) | 130/74 | 169/115 | 128/82 | 91/64 | 116/73 | |
Heart rate (bpm) | 69 | 99 | 73 | 70 | 65 | |
Lab | CK(IU/l) | 4822 | 1794 | 3520 | 528 | 2362 |
| Â | NT-pro BNP(pg/mL) | 29.27 | 20.93 | 34.75 | 156.2 | 18.62 |
DYSF mutation | c.[1284+2T>C]+[2997G>T] | c.3307A>T,c.4201insC | c.2974T>A | c.[1284+2T>C(+)2974T>C] | c.[3112C>T]+[3112C>T] | |
Family Hx | - | - | - | + | - | |
Age of onset | 18 | 18 | 18 | 34 | 37 | |
U/Ex | proximal | 4+ | 4+ | 5 | 4 | 5 |
| Â | distal | 4+ | 3 | 5 | 4- | 5 |
L/Ex | proximal | 5 | 2 | 4 | 4+ | 5 |
| Â | distal | 4 | 2 | 4 | 2 | 4- |
ECG | NSR | NSR, LVH, LAFB | NSR | NSR, LVH | NSR | |