|
1
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
7
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
8
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0003694)
|
Late-onset proximal muscle weakness |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0003736)
|
Autophagic vacuoles |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0009072)
|
Decreased Achilles reflex |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Distal muscle weakness occurs initially |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Proximal muscle weakness occurs later |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(OMIM)
|
Velopharyngeal muscle weakness |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Fiber size variation |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Z-disks with abnormal homogeneous material |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|