|
1
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0003697)
|
Scapuloperoneal amyotrophy |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0003704)
|
Scapuloperoneal weakness |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0009055)
|
Generalized limb muscle atrophy |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
No hypertrophic cardiomyopathy |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Reduced vital capacity due to muscle weakness |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Generalized muscle weakness, proximal and distal |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
EMG shows myopathy |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows type 1 fiber predominance |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Subsarcolemmal hyaline bodies in type 1 fibers only |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Type 1 fibers with inclusions containing MYH7 protein aggregates |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Positive staining for ATPase activity at pH of 4.3 |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|