|
1
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
9
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
11
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
13
|
(OMIM)
|
Absence of ophthalmoparesis |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Respiratory muscle weakness may occur |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Distal muscle weakness may also occur |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decremental compound motor action potential (CMAP) response to repetitive nerve stimulation seen on EMG |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased jitter seen on single fiber EMG |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|