|
1
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
2
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
3
|
(OMIM)
|
Muscle weakness, distal more than proximal |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
7
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
8
|
(OMIM)
|
Easy fatigue |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Central cores seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Fiber-type variability |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
12
|
(OMIM)
|
Loss of sarcomeric striations |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Protein aggregates immunopositive for actin and desmin |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
15
|
(OMIM)
|
Normal serum creatine kinase |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|