|
1
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0002877)
|
Nocturnal hypoventilation |
5/11 [HPO:probinson]
|
|
|
|
9 / 7739
|
|
3
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
9
|
(HPO:0003731)
|
Quadriceps muscle weakness |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
13
|
(OMIM)
|
Distal lower limb anterior compartment weakness |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Bilateral foot drop |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy shows atrophy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Congophilic eosinophilic inclusions |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased fat and fibrous tissue |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Increased creatine kinase, mild to moderate |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
22
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
24
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|