|
1
|
(HPO:0003756)
|
Skeletal myopathy |
Frequent [IBIS]
|
70% (n=159)
|
20718792
|
IBIS
|
8 / 7739
|
|
2
|
(HPO:0011675)
|
Arrhythmia |
Frequent [IBIS]
|
60% (n=159)
|
20718792
|
IBIS
|
226 / 7739
|
|
3
|
(HPO:0040081)
|
Abnormal levels of creatine kinase in blood |
Frequent [IBIS]
|
57% (n=159)
|
20718792
|
IBIS
|
2 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
47% (n=138)
|
20718792
|
IBIS
|
192 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
Occasional [IBIS]
|
27% (n=106)
|
20718792
|
IBIS
|
122 / 7739
|
|
6
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
Occasional [IBIS]
|
26% (n=110)
|
20718792
|
IBIS
|
48 / 7739
|
|
7
|
(HPO:0001645)
|
Sudden cardiac death |
Occasional [IBIS]
|
26% (n=27)
|
20718792
|
IBIS
|
84 / 7739
|
|
8
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
17% (n=138)
|
20718792
|
IBIS
|
141 / 7739
|
|
9
|
(HPO:0005130)
|
Restrictive heart failure |
Occasional [IBIS]
|
12% (n=138)
|
20718792
|
IBIS
|
2 / 7739
|
|
10
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Rare [IBIS]
|
6% (n=138)
|
22275259
|
IBIS
|
137 / 7739
|
|
11
|
(HPO:0003701)
|
Proximal muscle weakness |
Rare [IBIS]
|
6% (n=106)
|
20718792
|
IBIS
|
105 / 7739
|
|
12
|
(OMIM)
|
Arrhythmogenic right ventricular cardiomyopathy |
Rare [IBIS]
|
1% (n=138)
|
20718792
|
IBIS
|
3 / 7739
|
|
13
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
8122252
|
IBIS
|
29 / 7739
|
|
14
|
(HPO:0001283)
|
Bulbar palsy |
|
|
8114783
|
IBIS
|
31 / 7739
|
|
15
|
(HPO:0002014)
|
Diarrhea |
|
|
17221859
|
IBIS
|
225 / 7739
|
|
16
|
(HPO:0002019)
|
Constipation |
|
|
17221859
|
IBIS
|
194 / 7739
|
|
17
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
8114783
|
IBIS
|
13 / 7739
|
|
18
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
18061454
|
IBIS
|
38 / 7739
|
|
19
|
(HPO:0003694)
|
Late-onset proximal muscle weakness |
|
|
8509778
|
IBIS
|
3 / 7739
|
|
20
|
(HPO:0010628)
|
Facial palsy |
|
|
9697706
|
IBIS
|
146 / 7739
|
|
21
|
(HPO:0011663)
|
Right ventricular cardiomyopathy |
|
|
10970245
|
IBIS
|
17 / 7739
|
|
22
|
(HPO:0001678)
|
Atrioventricular block |
|
|
10970245
|
IBIS
|
59 / 7739
|
|
23
|
(OMIM)
|
Conduction abnormalities |
|
|
9382102
|
IBIS
|
2 / 7739
|
|
24
|
(OMIM)
|
Constipation due to smooth muscle involvement |
|
|
17221859
|
IBIS
|
1 / 7739
|
|
25
|
(OMIM)
|
Diarrhea due to smooth muscle involvement |
|
|
17221859
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Proximal muscle weakness occurs later |
|
|
17720647
|
IBIS
|
3 / 7739
|
|
27
|
(OMIM)
|
Affected muscles show atrophy |
|
|
9697706
|
IBIS
|
1 / 7739
|
|
28
|
(OMIM)
|
Smooth muscle may also become involved |
|
|
17221859
|
IBIS
|
1 / 7739
|
|
29
|
(OMIM)
|
Biopsy shows degenerative changes consistent with myopathy |
|
|
10970245
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
Intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin |
|
|
10970245, 7672786
|
IBIS
|
1 / 7739
|
|
31
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
20718792
|
IBIS
|
71 / 7739
|
|
32
|
(MedDRA:10003668)
|
Atrial tachycardia |
|
|
20718792
|
IBIS
|
3 / 7739
|
|
33
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
20718792
|
IBIS
|
55 / 7739
|
|
34
|
(HPO:0011712)
|
Right bundle branch block |
|
|
20718792
|
IBIS
|
34 / 7739
|
|
35
|
(HPO:0011713)
|
Left bundle branch block |
|
|
20718792
|
IBIS
|
30 / 7739
|
|
36
|
(HPO:0011711)
|
Left anterior fascicular block |
|
|
20718792
|
IBIS
|
7 / 7739
|
|
37
|
(MedDRA:10057393)
|
Bifascicular block |
|
|
20718792
|
IBIS
|
4 / 7739
|
|
38
|
(HPO:0011715)
|
Trifascicular block |
|
|
20718792
|
IBIS
|
1 / 7739
|