|
1
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [HPO:skoehler]
|
|
|
|
214 / 7739
|
|
2
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
3
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
10
|
(OMIM)
|
Facial weakness, mild |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Asymmetric muscle involvement |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Prominent involvement of the quadriceps femoris muscles |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Quadriceps atrophy |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Prominent involvement of the biceps brachii muscles |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Biceps brachii atrophy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
17
|
(OMIM)
|
Skeletal muscle biopsy shows dystrophic changes |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows disruption of the sarcolemmal membrane |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
MRI shows increased connective tissue and fat |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal or increased serum creatine kinase |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
23
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|