|
1
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
2
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
8
|
(HPO:0003810)
|
Late-onset distal muscle weakness |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
Distal muscle weakness occurs later |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Respiratory muscles may be involved (more common in juvenile-onset) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
12
|
(OMIM)
|
Biopsy shows myopathic changes |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Rimmed vacuoles may occur |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Serum creatine kinase may be normal or elevated |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
16
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
17
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
rare [HPO:skoehler]
|
|
|
|
48 / 7739
|
|
18
|
(HPO:0003306)
|
Spinal rigidity |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
19
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
21
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0003736)
|
Autophagic vacuoles |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0009025)
|
Increased connective tissue |
|
|
|
|
11 / 7739
|