|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
3
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
10
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
11
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
12
|
(OMIM)
|
Arrhythmias may occur |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
|
14
|
(OMIM)
|
Muscle wasting, progressive |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Upper limb weakness |
|
|
|
|
5 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy showed myopathic changes |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Hyaline inclusions |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
19
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0009054)
|
Scapuloperoneal myopathy |
|
|
|
|
2 / 7739
|