|
1
|
(HPO:0000759)
|
Abnormal peripheral nervous system morphology |
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
3
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
8
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0100303)
|
Muscle fiber cytoplasmatic inclusion bodies |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Muscle weakness, proximal, slowly progressive |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Lower limbs more affected than upper limbs |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Distal muscles may be affected |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Muscle biopsy shows myofibrillar myopathy |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Abnormal muscle fibers with amorphous, granular, or hyaline deposits |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Increased internal nuclei |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Necrotic fibers |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Abnormal aggregates of desmin and filamin C |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Electron microscopy showed Z-disk streaming |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Nemaline rod formation |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Peripheral nerve involvement may occur |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|