|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
7
|
(OMIM)
|
Respiratory insufficiency due to muscle weakness leading to ventilator dependency |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
|
9
|
(OMIM)
|
Loss of antigravity strength |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Skeletal muscle biopsy shows reducing bodies |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Inclusions stain positively with nitroblue tetrazolium (NBT) |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Cytoplasmic inclusion bodies |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|