|
1
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
8
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
9
|
(OMIM)
|
No facial weakness |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Limb muscle weakness, proximal, upper and lower |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(OMIM)
|
Difficulty climbing stairs, jumping, running |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Slow motor responses to sudden events (i.e., falling) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Poor exercise tolerance |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Distal muscle weakness and atrophy |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Imaging shows progressive fatty infiltration of muscle |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
19
|
(OMIM)
|
Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Muscle biopsy shows type 1 fiber predominance and hypertrophy |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Muscle biopsy shows loss of myofibrillar organization |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows core-like regions devoid of oxidative activity |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal motor development |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Gait abnormalities due to muscle weakness |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|