|
1
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
2
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
3
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
8
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
10
|
(OMIM)
|
Respiratory difficulties due to muscle weakness in some patients |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
12
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(OMIM)
|
Tremor, upper limbs |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Muscle pain and cramping on exertion |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EMG shows myopathic features |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Spheroid bodies are composed of fine filamentous (myofibrillar) material |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Muscle fibers contain internal nuclei |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
21
|
(OMIM)
|
Streaming of the Z-disk seen on electron microscopy |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
25
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|