|
1
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
3
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0009050)
|
Quadriceps muscle atrophy |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Inability to stand on tiptoes |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Calf muscle discomfort |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Calf muscle weakness |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
10
|
(OMIM)
|
Calf atrophy (later onset) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hypertrophy of the extensor digitorum brevis muscles |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
MRI shows fatty infiltration of affected muscles |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Difficulty rising from chair |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Proximal lower limb muscle weakness, upper and lower (later onset) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Quadriceps atrophy |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Muscle weakness and atrophy may be asymmetric |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Disruption of the sarcolemmal membrane seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
20
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|