|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
8
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
9
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows degenerating endplates and junctional folds |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Denuded postsynaptic regions |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased acetylcholine receptors (AChR) at endplate junctional folds (less common) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Degenerating nerve terminals |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased postsynaptic length |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Electromyographic decrements in some muscles |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased endplate potential and amplitudes |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Disorganization of the neuromuscular junction |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|