|
1
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
2
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
3
|
(HPO:0003697)
|
Scapuloperoneal amyotrophy |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0003704)
|
Scapuloperoneal weakness |
|
|
|
|
6 / 7739
|
|
5
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
6
|
(OMIM)
|
Muscle biopsy shows type I fiber predominance |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Subsarcolemmal hyaline bodies in 25-30% type I fibers only |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Positive staining for ATPase activity at pH of 4.3 |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Positive staining for slow myosin heavy chain |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
No staining for oxidative enzymes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
No staining for periodic acid Schiff (PAS) |
|
|
|
|
1 / 7739
|