|
1
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
2
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
4
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
7
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
11
|
(OMIM)
|
Distal muscle weakness and atrophy may occur, upper and lower limbs affected |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
[DEL]Myopathic changes seen on EMG |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Muscle fiber splitting and fibrosis seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
15
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
16
|
(OMIM)
|
Dystrophic changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Myofibrillar disintegration |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Tubulofilamentous inclusions |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Inclusions are DNAJB6-immunoreactive |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Inclusions are TDP43-immunoreactive |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Z-disc streaming |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Fatty replacement |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|